{"id":20182,"date":"2026-01-20T16:20:09","date_gmt":"2026-01-20T15:20:09","guid":{"rendered":"https:\/\/biobank.buleboo-estudio.net\/documentacion\/"},"modified":"2026-07-28T13:44:51","modified_gmt":"2026-07-28T11:44:51","slug":"documentation","status":"publish","type":"page","link":"https:\/\/biobank.buleboo-estudio.net\/en\/documentation\/","title":{"rendered":"Documentation"},"content":{"rendered":"\n<div class=\"wp-block-cover alignfull s-cabecera\"><img loading=\"lazy\" decoding=\"async\" width=\"1440\" height=\"337\" class=\"wp-block-cover__image-background wp-image-342 size-full\" alt=\"\" src=\"https:\/\/biobank.buleboo-estudio.net\/wp-content\/uploads\/cabecera-ciberer-biobank.png\" data-object-fit=\"cover\" srcset=\"https:\/\/biobank.buleboo-estudio.net\/wp-content\/uploads\/cabecera-ciberer-biobank.png 1440w, https:\/\/biobank.buleboo-estudio.net\/wp-content\/uploads\/cabecera-ciberer-biobank-768x180.png 768w\" sizes=\"auto, (max-width: 1440px) 100vw, 1440px\" \/><span aria-hidden=\"true\" class=\"wp-block-cover__background has-background-dim-0 has-background-dim\" style=\"background-color:#3d6692\"><\/span><div class=\"wp-block-cover__inner-container is-layout-constrained wp-block-cover-is-layout-constrained\">\n<h1 class=\"wp-block-heading alignfull has-text-align-left\">Documentaci\u00f3n<\/h1>\n<\/div><\/div>\n\n\n<div class=\"custom-breadcrumbs alignfull\"><ul class=\"custom-breadcrumbs__container\"><li class=\"custom-breadcrumbs__item\"><a href=\"https:\/\/biobank.buleboo-estudio.net\/en\/\">Home<\/a><\/li><\/ul><\/div>\n\n\n\n<div class=\"wp-block-columns alignwide s-necesario is-layout-flex wp-container-core-columns-is-layout-8f761849 wp-block-columns-is-layout-flex\">\n<div class=\"wp-block-column is-layout-flow wp-block-column-is-layout-flow\">\n<h2 class=\"wp-block-heading has-text-align-center mb-xxl\">NUESTRA DOCUMENTACI\u00d3N<\/h2>\n\n\n    <div  class=\"tabs-con-iconos\">\r\n        \r\n        <ul class=\"__items custom-tabs-nav\" role=\"tablist\">\r\n                            <li data-target=\"gestion-calidad\" class=\"item custom-tab-btn custom-tab-btn-icono active\" role=\"tab\">\r\n                    \r\n                                            <span class=\"tab-icon\">\r\n                            <img decoding=\"async\" src=\"https:\/\/biobank.buleboo-estudio.net\/wp-content\/uploads\/icono-documentacion-1.svg\" alt=\"\" \/>\r\n                        <\/span>\r\n                    \r\n                    <span class=\"tab-text\">\r\n                        Sistema de gesti\u00f3n de calidad  \r\n                    <\/span>\r\n\r\n                <\/li>\r\n                            <li data-target=\"legislacion\" class=\"item custom-tab-btn custom-tab-btn-icono\" role=\"tab\">\r\n                    \r\n                                            <span class=\"tab-icon\">\r\n                            <img decoding=\"async\" src=\"https:\/\/biobank.buleboo-estudio.net\/wp-content\/uploads\/icono-documentacion-2.svg\" alt=\"\" \/>\r\n                        <\/span>\r\n                    \r\n                    <span class=\"tab-text\">\r\n                        Legislaci\u00f3n  \r\n                    <\/span>\r\n\r\n                <\/li>\r\n                            <li data-target=\"memoria-actividades\" class=\"item custom-tab-btn custom-tab-btn-icono\" role=\"tab\">\r\n                    \r\n                                            <span class=\"tab-icon\">\r\n                            <img decoding=\"async\" src=\"https:\/\/biobank.buleboo-estudio.net\/wp-content\/uploads\/icono-documentacion-3.svg\" alt=\"\" \/>\r\n                        <\/span>\r\n                    \r\n                    <span class=\"tab-text\">\r\n                        Memoria de actividades  \r\n                    <\/span>\r\n\r\n                <\/li>\r\n                            <li data-target=\"publicaciones\" class=\"item custom-tab-btn custom-tab-btn-icono\" role=\"tab\">\r\n                    \r\n                                            <span class=\"tab-icon\">\r\n                            <img decoding=\"async\" src=\"https:\/\/biobank.buleboo-estudio.net\/wp-content\/uploads\/icono-documentacion-4-1.svg\" alt=\"\" \/>\r\n                        <\/span>\r\n                    \r\n                    <span class=\"tab-text\">\r\n                        Publicaciones  \r\n                    <\/span>\r\n\r\n                <\/li>\r\n                    <\/ul>\r\n    <\/div>\r\n\n\n\n<div class=\"wp-block-columns alignfull is-layout-flex wp-container-core-columns-is-layout-8f761849 wp-block-columns-is-layout-flex\" id=\"gestion-calidad\">\n<div class=\"wp-block-column is-layout-flow wp-block-column-is-layout-flow\">\n<h2 class=\"wp-block-heading\">El Sistema de Gesti\u00f3n de Calidad<\/h2>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>El Sistema de Gesti\u00f3n de Calidad (SGC)<\/strong> es\u00a0un\u00a0conjunto de pol\u00edticas, procesos y procedimientos\u00a0que\u00a0utilizamos en el biobanco\u00a0para asegurar que\u00a0nuestros\u00a0productos o servicios cumplen de forma consistente con la normativa aplicable,\u00a0con los requisitos de\u00a0los investigadores\u00a0y para mejorar continuamente\u00a0nuestra actividad que es la gesti\u00f3n de muestras humanas.\u00a0Para los\u00a0biobancos, la calidad no solo es un requisito t\u00e9cnico obligatorio de\u00a0la\u00a0actividad\u00a0desarrollada, sino que es un imperativo legal como est\u00e1 indicado en el Real Decreto 1716\/2011.<\/p>\n\n\n\n<pre class=\"wp-block-preformatted btn-abrir\"><a href=\"#info-extra\">Leer m\u00e1s...<\/a><\/pre>\n\n\n\n<div class=\"wp-block-columns alignfull is-layout-flex wp-container-core-columns-is-layout-8f761849 wp-block-columns-is-layout-flex\">\n<div class=\"wp-block-column contenido-toggle is-layout-flow wp-block-column-is-layout-flow\" id=\"info-extra\">\n<p class=\"wp-block-paragraph\">El objetivo del CIBERER&nbsp;Biobank, como&nbsp;servicio a la comunidad cient\u00edfica, es&nbsp;proveer&nbsp;a los investigadores&nbsp;de&nbsp;<strong>muestras&nbsp;de alto valor biol\u00f3gico para la investigaci\u00f3n&nbsp;biom\u00e9dica&nbsp;en enfermedades raras<\/strong>, partiendo de donaciones voluntarias de pacientes&nbsp;y&nbsp;sujetos sanos.&nbsp;&nbsp;<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">&nbsp;En la norma ISO 9001&nbsp;se&nbsp;especifican&nbsp;los requisitos que debe cumplir el SGC&nbsp;de cualquier organizaci\u00f3n. Estos requisitos est\u00e1n basados&nbsp;en la satisfacci\u00f3n del usuario y en la atenci\u00f3n y respuesta a las expectativas planteadas por todas&nbsp;las partes&nbsp;implicadas: donantes, profesionales cl\u00ednicos, asociaciones de pacientes, investigadores y la sociedad en general.&nbsp;&nbsp;<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">En&nbsp;2013, el&nbsp;CIBERER&nbsp;Biobank&nbsp;obtuvo la certificaci\u00f3n de la&nbsp;Norma ISO 9001:2008&nbsp;y en 2017 se recertifica con \u00e9xito el SGC para la Norma ISO 9001:2015.&nbsp;\u202f&nbsp; \u00a0<\/p>\n\n\n\n<pre class=\"wp-block-preformatted btn-cerrar\"><a href=\"#info-extra\">Leer menos...<\/a><\/pre>\n<\/div>\n<\/div>\n\n\n\n<div class=\"wp-block-group is-content-justification-center is-nowrap is-layout-flex wp-container-core-group-is-layout-d05cb3ef wp-block-group-is-layout-flex\"><div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full\"><a href=\"https:\/\/www.ciberer-biobank.es\/Documentacion\/CertificadoER-0858-2013_ES_2019-10-17.pdf\" target=\"_blank\" rel=\" noreferrer noopener\"><img loading=\"lazy\" decoding=\"async\" width=\"101\" height=\"85\" src=\"https:\/\/biobank.buleboo-estudio.net\/wp-content\/uploads\/logo-aenor-color.svg\" alt=\"\" class=\"wp-image-766\"\/><\/a><\/figure>\n<\/div>\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full\"><a href=\"https:\/\/www.ciberer-biobank.es\/Documentacion\/IQNetES-0858-2013_2019-10-17.pdf\" target=\"_blank\" rel=\" noreferrer noopener\"><img loading=\"lazy\" decoding=\"async\" width=\"101\" height=\"101\" src=\"https:\/\/biobank.buleboo-estudio.net\/wp-content\/uploads\/IQNET-RCMark_PosCMYK-1.svg\" alt=\"\" class=\"wp-image-352\"\/><\/a><\/figure>\n<\/div><\/div>\n<\/div>\n<\/div>\n\n\n\n<div class=\"wp-block-columns alignfull is-layout-flex wp-container-core-columns-is-layout-8f761849 wp-block-columns-is-layout-flex\" id=\"legislacion\">\n<div class=\"wp-block-column is-layout-flow wp-block-column-is-layout-flow\">\n<h2 class=\"wp-block-heading\">LEGISLACI\u00d3N<\/h2>\n\n\n\n<figure class=\"wp-block-table alignwide tabla\"><table class=\"has-fixed-layout\"><tbody><tr><td>RD_1716_2011 Biobancos<\/td><td class=\"has-text-align-right\" data-align=\"right\"><a href=\"https:\/\/www.ciberer-biobank.es\/Documentacion\/Legislacion\/RD_1716_2011%20Biobancos.pdf\" target=\"_blank\" rel=\"noreferrer noopener\">descargar<\/a><img loading=\"lazy\" decoding=\"async\" width=\"14\" height=\"18\" class=\"wp-image-611\" style=\"width: 14px;\" src=\"https:\/\/biobank.buleboo-estudio.net\/wp-content\/uploads\/icono-pdf.svg\" alt=\"\"><\/td><\/tr><tr><td>RD_1716_2011 Modificaci\u00f3n Anexo<\/td><td class=\"has-text-align-right\" data-align=\"right\"><a href=\"https:\/\/www.ciberer-biobank.es\/Documentacion\/Legislacion\/RD_1716_2011_Modificaci%C3%B3n%20Anexo.pdf\" target=\"_blank\" rel=\"noreferrer noopener\">descargar<\/a><img loading=\"lazy\" decoding=\"async\" width=\"14\" height=\"18\" class=\"wp-image-611\" style=\"width: 14px;\" src=\"https:\/\/biobank.buleboo-estudio.net\/wp-content\/uploads\/icono-pdf.svg\" alt=\"\"><\/td><\/tr><tr><td>Ley 14-2007 de investigaci\u00f3n Biom\u00e9dica<\/td><td class=\"has-text-align-right\" data-align=\"right\"><a href=\"https:\/\/www.ciberer-biobank.es\/Documentacion\/Legislacion\/Ley%2014-2007%20de%20Investigaci%C3%B3n%20biom%C3%A9dica.pdf\" target=\"_blank\" rel=\"noreferrer noopener\">descargar<\/a><img loading=\"lazy\" decoding=\"async\" width=\"14\" height=\"18\" class=\"wp-image-611\" style=\"width: 14px;\" src=\"https:\/\/biobank.buleboo-estudio.net\/wp-content\/uploads\/icono-pdf.svg\" alt=\"\"><\/td><\/tr><tr><td>Decreto2008_11683<\/td><td class=\"has-text-align-right\" data-align=\"right\"><a href=\"https:\/\/www.ciberer-biobank.es\/Documentacion\/Legislacion\/Decreto2008_11683.pdf\" target=\"_blank\" rel=\"noreferrer noopener\">descargar<\/a><img loading=\"lazy\" decoding=\"async\" width=\"14\" height=\"18\" class=\"wp-image-611\" style=\"width: 14px;\" src=\"https:\/\/biobank.buleboo-estudio.net\/wp-content\/uploads\/icono-pdf.svg\" alt=\"\"><\/td><\/tr><tr><td>Reglamento UE 2016-679 protecci\u00f3n de datos RGPD<\/td><td class=\"has-text-align-right\" data-align=\"right\"><a href=\"https:\/\/www.ciberer-biobank.es\/Documentacion\/Legislacion\/Reglamento%20UE%202016-679%20protecci%C3%B3n%20de%20datos%20RGPD.pdf\" target=\"_blank\" rel=\"noreferrer noopener\">descargar<\/a><img loading=\"lazy\" decoding=\"async\" width=\"14\" height=\"18\" class=\"wp-image-611\" style=\"width: 14px;\" src=\"https:\/\/biobank.buleboo-estudio.net\/wp-content\/uploads\/icono-pdf.svg\" alt=\"\"><\/td><\/tr><tr><td>Ley_41_2002<\/td><td class=\"has-text-align-right\" data-align=\"right\"><a href=\"https:\/\/www.ciberer-biobank.es\/Documentacion\/Legislacion\/Ley_41_2002.pdf\" target=\"_blank\" rel=\"noreferrer noopener\">descargar<\/a><img loading=\"lazy\" decoding=\"async\" width=\"14\" height=\"18\" class=\"wp-image-611\" style=\"width: 14px;\" src=\"https:\/\/biobank.buleboo-estudio.net\/wp-content\/uploads\/icono-pdf.svg\" alt=\"\"><\/td><\/tr><tr><td>Rec(2006)4_on_research_on_biological_materials_of_human_origin_15_march_2026<\/td><td class=\"has-text-align-right\" data-align=\"right\"><a href=\"https:\/\/www.ciberer-biobank.es\/Documentacion\/Legislacion\/Rec(2006)4_on_research_on_biological_materials_of__human_origin_15_march_2006.pdf\" target=\"_blank\" rel=\"noreferrer noopener\">descargar<\/a><img loading=\"lazy\" decoding=\"async\" width=\"14\" height=\"18\" class=\"wp-image-611\" style=\"width: 14px;\" src=\"https:\/\/biobank.buleboo-estudio.net\/wp-content\/uploads\/icono-pdf.svg\" alt=\"\"><\/td><\/tr><\/tbody><\/table><\/figure>\n<\/div>\n<\/div>\n\n\n\n<div class=\"wp-block-columns alignfull is-layout-flex wp-container-core-columns-is-layout-8f761849 wp-block-columns-is-layout-flex\" id=\"memoria-actividades\">\n<div class=\"wp-block-column is-layout-flow wp-block-column-is-layout-flow\">\n<h2 class=\"wp-block-heading\">Memoria de actividades<\/h2>\n\n\n\n<figure class=\"wp-block-table alignwide tabla\"><table class=\"has-fixed-layout\"><tbody><tr><td>Memoria de Actividades 2022<\/td><td class=\"has-text-align-right\" data-align=\"right\"><a href=\"https:\/\/www.ciberer-biobank.es\/Documentacion\/Memoria_de_actividades\/MemoriaActividades_2022.pdf\" target=\"_blank\" rel=\"noreferrer noopener\">descargar<\/a><img loading=\"lazy\" decoding=\"async\" width=\"14\" height=\"18\" class=\"wp-image-611\" style=\"width: 14px;\" src=\"https:\/\/biobank.buleboo-estudio.net\/wp-content\/uploads\/icono-pdf.svg\" alt=\"\"><\/td><\/tr><tr><td>Memoria de Actividades 2021<\/td><td class=\"has-text-align-right\" data-align=\"right\"><a href=\"https:\/\/www.ciberer-biobank.es\/Documentacion\/Memoria_de_actividades\/MemoriaActividades_2021.pdf\" target=\"_blank\" rel=\"noreferrer noopener\">descargar<\/a><img loading=\"lazy\" decoding=\"async\" width=\"14\" height=\"18\" class=\"wp-image-611\" style=\"width: 14px;\" src=\"https:\/\/biobank.buleboo-estudio.net\/wp-content\/uploads\/icono-pdf.svg\" alt=\"\"><\/td><\/tr><tr><td>Memoria de Actividades 2020<\/td><td class=\"has-text-align-right\" data-align=\"right\"><a href=\"https:\/\/www.ciberer-biobank.es\/Documentacion\/Memoria_de_actividades\/MemoriaActividades_2020.pdf\" target=\"_blank\" rel=\"noreferrer noopener\">descargar<\/a><img loading=\"lazy\" decoding=\"async\" width=\"14\" height=\"18\" class=\"wp-image-611\" style=\"width: 14px;\" src=\"https:\/\/biobank.buleboo-estudio.net\/wp-content\/uploads\/icono-pdf.svg\" alt=\"\"><\/td><\/tr><tr><td>Memoria de Actividades 2019<\/td><td class=\"has-text-align-right\" data-align=\"right\"><a href=\"https:\/\/www.ciberer-biobank.es\/Documentacion\/Memoria_de_actividades\/MemoriaActividades_2019.pdf\" target=\"_blank\" rel=\"noreferrer noopener\">descargar<\/a><img loading=\"lazy\" decoding=\"async\" width=\"14\" height=\"18\" class=\"wp-image-611\" style=\"width: 14px;\" src=\"https:\/\/biobank.buleboo-estudio.net\/wp-content\/uploads\/icono-pdf.svg\" alt=\"\"><\/td><\/tr><tr><td>Memoria de Actividades 2018<\/td><td class=\"has-text-align-right\" data-align=\"right\"><a href=\"https:\/\/www.ciberer-biobank.es\/Documentacion\/Memoria_de_actividades\/MemoriaActividades_2018.pdf\" target=\"_blank\" rel=\"noreferrer noopener\">descargar<\/a><img loading=\"lazy\" decoding=\"async\" width=\"14\" height=\"18\" class=\"wp-image-611\" style=\"width: 14px;\" src=\"https:\/\/biobank.buleboo-estudio.net\/wp-content\/uploads\/icono-pdf.svg\" alt=\"\"><\/td><\/tr><tr><td>Memoria de Actividades 2017<\/td><td class=\"has-text-align-right\" data-align=\"right\"><a href=\"https:\/\/www.ciberer-biobank.es\/Documentacion\/Memoria_de_actividades\/MemoriaActividades_2017.pdf\" target=\"_blank\" rel=\"noreferrer noopener\">descargar<\/a><img loading=\"lazy\" decoding=\"async\" width=\"14\" height=\"18\" class=\"wp-image-611\" style=\"width: 14px;\" src=\"https:\/\/biobank.buleboo-estudio.net\/wp-content\/uploads\/icono-pdf.svg\" alt=\"\"><\/td><\/tr><tr><td>Memoria de Actividades 2016<\/td><td class=\"has-text-align-right\" data-align=\"right\"><a href=\"https:\/\/www.ciberer-biobank.es\/Documentacion\/Memoria_de_actividades\/MemoriaActividades_2016.pdf\" target=\"_blank\" rel=\"noreferrer noopener\">descargar<\/a><img loading=\"lazy\" decoding=\"async\" width=\"14\" height=\"18\" class=\"wp-image-611\" style=\"width: 14px;\" src=\"https:\/\/biobank.buleboo-estudio.net\/wp-content\/uploads\/icono-pdf.svg\" alt=\"\"><\/td><\/tr><tr><td>Memoria de Actividades 2015<\/td><td class=\"has-text-align-right\" data-align=\"right\"><a href=\"https:\/\/www.ciberer-biobank.es\/Documentacion\/Memoria_de_actividades\/MemoriaActividades_2015.pdf\" target=\"_blank\" rel=\"noreferrer noopener\">descargar<\/a><img loading=\"lazy\" decoding=\"async\" width=\"14\" height=\"18\" class=\"wp-image-611\" style=\"width: 14px;\" src=\"https:\/\/biobank.buleboo-estudio.net\/wp-content\/uploads\/icono-pdf.svg\" alt=\"\"><\/td><\/tr><\/tbody><\/table><\/figure>\n<\/div>\n<\/div>\n\n\n\n<div class=\"wp-block-columns alignfull is-layout-flex wp-container-core-columns-is-layout-8f761849 wp-block-columns-is-layout-flex\" id=\"publicaciones\">\n<div class=\"wp-block-column is-layout-flow wp-block-column-is-layout-flow\">\n<h2 class=\"wp-block-heading\">PUBLICACIONES<\/h2>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>Publicaciones con menci\u00f3n al CIBERER Biobank<\/strong><\/p>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"alignleft size-large\"><img loading=\"lazy\" decoding=\"async\" width=\"213\" height=\"34\" src=\"https:\/\/biobank.buleboo-estudio.net\/wp-content\/uploads\/image-google-academico.svg\" alt=\"\" class=\"wp-image-711\"\/><\/figure>\n<\/div>\n\n\n<div class=\"wp-block-group alignfull s-ventajas-2 is-layout-grid wp-container-core-group-is-layout-d969a5ad wp-block-group-is-layout-grid\">\n<div class=\"wp-block-group\"><div class=\"wp-block-group__inner-container is-layout-constrained wp-block-group-is-layout-constrained\">\n<p class=\"wp-block-paragraph\">Alejandra Dami\u00e1n,&nbsp;Gonzalo N\u00fa\u00f1ez-Moreno,&nbsp;Claire Jubin&nbsp;,&nbsp;Alejandra Tamayo,&nbsp;Marta Rodr\u00edguez de Alba,&nbsp;Cristina Villaverde,&nbsp;C\u00e9dric Fund,&nbsp;Marc Del\u00e9pine,&nbsp;Aur\u00e9lie Leduc,&nbsp;Jean Fran\u00e7ois Deleuze,&nbsp;Pablo M\u00ednguez,&nbsp;Carmen Ayuso,&nbsp;Marta Corton.&nbsp;<a href=\"https:\/\/link.springer.com\/article\/10.1186\/s40246-023-00490-8\" target=\"_blank\" rel=\"noreferrer noopener\">Long-read genome sequencing identifies cryptic structural variants in congenital aniridia cases<\/a>.&nbsp;2023. Hum Genomics.<\/p>\n<\/div><\/div>\n\n\n\n<div class=\"wp-block-group\"><div class=\"wp-block-group__inner-container is-layout-constrained wp-block-group-is-layout-constrained\">\n<p class=\"wp-block-paragraph\">Parrado, A., Rubio, G., Serrano, M., De la Morena-Barrio, M.E., Ib\u00e1\u00f1ez-Mic\u00f3, S., Ruiz-Lafuente, N., Schwartz-Albiez, R., Esteve-Sol\u00e9, A., Alsina, L., Corral, J., Hern\u00e1ndez-Caselles. T.&nbsp;<a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/34420056\/\" target=\"_blank\" rel=\"noreferrer noopener\">Dissecting the transcriptional program of phosphomannomutase 2-deficient cells: Lymphoblastoide B cell lines as a valuable model for congenital disorders of glycosylation studies<\/a>.&nbsp;2022. Glycobiology.<\/p>\n<\/div><\/div>\n\n\n\n<div class=\"wp-block-group\"><div class=\"wp-block-group__inner-container is-layout-constrained wp-block-group-is-layout-constrained\">\n<p class=\"wp-block-paragraph\">Luque, J., Mendes, I., G\u00f3mez, B., Morte, B., L\u00f3pez de Heredia, M., Herreras, E., Corrochano, V., Bueren, J., Gallano, P., Artuch, R., Fillat, C., P\u00e9rez-Jurado, L.A., Montoliu, Ll., Carracedo, A., Mill\u00e1n, J.M., Webb, S.M., Palau, F., <a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/35060122\/\" target=\"_blank\" rel=\"noreferrer noopener\">CIBERER Network; Lapunzina, P.&nbsp;CIBERER: Spanish national network for research on rare diseases: A highly productive collaborative initiative<\/a>.&nbsp;2022. Clin Genet.<\/p>\n<\/div><\/div>\n\n\n\n<div class=\"wp-block-group\"><div class=\"wp-block-group__inner-container is-layout-constrained wp-block-group-is-layout-constrained\">\n<p class=\"wp-block-paragraph\">Moll\u00e1 B, Mu\u00f1oz-Lasso DC, Calap P, Fernandez-Vilata A, de la Iglesia-Vaya M, Pallard\u00f3 FV, Molt\u00f3 MD, Palau F, Gonzalez-Cabo P.&nbsp;<a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/30761510\/\" target=\"_blank\" rel=\"noreferrer noopener\">Phosphodiesterase Inhibitors Revert Axonal Dystrophy in Friedreich&#8217;s Ataxia Mouse Model<\/a>.&nbsp;2019. Neurotherapeutics.<\/p>\n<\/div><\/div>\n\n\n\n<div class=\"wp-block-group\"><div class=\"wp-block-group__inner-container is-layout-constrained wp-block-group-is-layout-constrained\">\n<p class=\"wp-block-paragraph\">Rubio-Solsona E, Mart\u00ed S, V\u00edlchez JJ, Palau F, Hoenicka J.&nbsp;<a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/29874274\/\" target=\"_blank\" rel=\"noreferrer noopener\">ANKK1 is found in myogenic precursors and muscle fibers subtypes with glycolytic metabolism<\/a>.&nbsp;2018. PLoS One.<\/p>\n<\/div><\/div>\n\n\n\n<div class=\"wp-block-group\"><div class=\"wp-block-group__inner-container is-layout-constrained wp-block-group-is-layout-constrained\">\n<p class=\"wp-block-paragraph\">Garc\u00eda-Gim\u00e9nez JL, Rubio-Belmar PA, Peir\u00f3-Chova L, Herv\u00e1s D, Gonz\u00e1lez-Rodr\u00edguez D, Iba\u00f1ez-Cabellos JS, Bas-Hermida P, Mena-Moll\u00e1 S, Garc\u00eda-L\u00f3pez EM, Pallard\u00f3 FV, Bas T.&nbsp;<a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/29422531\/\" target=\"_blank\" rel=\"noreferrer noopener\">Circulating miRNAs as diagnostic biomarkers for adolescent idiopathic scoliosis<\/a>.&nbsp;2018. Sci Rep.<\/p>\n<\/div><\/div>\n\n\n\n<div class=\"wp-block-group\"><div class=\"wp-block-group__inner-container is-layout-constrained wp-block-group-is-layout-constrained\">\n<p class=\"wp-block-paragraph\">Seco-Cervera M, Gonz\u00e1lez-Rodr\u00edguez D, Ib\u00e1\u00f1ez-Cabellos JS, Peir\u00f3-Chova L, Pallard\u00f3 FV, Garc\u00eda-Gim\u00e9nez JL&nbsp;<a href=\"https:\/\/www.nature.com\/articles\/sdata201821\" target=\"_blank\" rel=\"noreferrer noopener\">Data Descriptor: Small RNA-seq analysis of circulating miRNAs to identify phenotypic variability in Friedreich\u2019s ataxia patients<\/a>.&nbsp;2018. Scientific Data &#8211; Nature.<\/p>\n<\/div><\/div>\n\n\n\n<div class=\"wp-block-group\"><div class=\"wp-block-group__inner-container is-layout-constrained wp-block-group-is-layout-constrained\">\n<p class=\"wp-block-paragraph\">Consuegra I, Rodr\u00edguez-Aierbe C, Santiuste I, Bosch A, Mart\u00ednez-Mar\u00edn R, Fortuto MA, D\u00edaz T, Mart\u00ed S, Mu\u00f1oz-Fern\u00e1ndez M\u00c1.&nbsp;<a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/28398808\/\" target=\"_blank\" rel=\"noreferrer noopener\">Isolation Methods of Peripheral Blood Mononuclear Cells in Spanish Biobanks: An Overview.&nbsp;2017<\/a>. Biopreserv Biobank.<\/p>\n<\/div><\/div>\n\n\n\n<div class=\"wp-block-group\"><div class=\"wp-block-group__inner-container is-layout-constrained wp-block-group-is-layout-constrained\">\n<p class=\"wp-block-paragraph\">Seco-Cervera M, Gonz\u00e1lez-Rodr\u00edguez D, Ib\u00e1\u00f1ez-Cabellos JS, Peir\u00f3-Chova L, Gonz\u00e1lez-Cabo P, Garc\u00eda-L\u00f3pez E, V\u00edlchez JJ, Sanz-Gallego I, Pallard\u00f3 FV, Garc\u00eda-Gim\u00e9nez JL.&nbsp;<a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/28701783\/\" target=\"_blank\" rel=\"noreferrer noopener\">Circulating miR-323-3p is a biomarker for cardiomyopathy and an indicator of phenotypic variability in Friedreich&#8217;s ataxia patients<\/a>.&nbsp;2017. Sci Rep.<\/p>\n<\/div><\/div>\n\n\n\n<div class=\"wp-block-group\"><div class=\"wp-block-group__inner-container is-layout-constrained wp-block-group-is-layout-constrained\">\n<p class=\"wp-block-paragraph\">Mart\u00ed S, Le\u00f3n M, Orellana C, Prieto J, Ponsoda X, L\u00f3pez-Garc\u00eda C, V\u00edlchez JJ, Sevilla T, Torres J.&nbsp;<a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/28395795\/\" target=\"_blank\" rel=\"noreferrer noopener\">Generation of a disease-specific iPS cell line derived from a patient with Charcot-Marie-Tooth type 2K lacking functional GDAP1 gene<\/a>.&nbsp;2017. Stem Cell Res.<\/p>\n<\/div><\/div>\n\n\n\n<div class=\"wp-block-group\"><div class=\"wp-block-group__inner-container is-layout-constrained wp-block-group-is-layout-constrained\">\n<p class=\"wp-block-paragraph\">Urreizti R, Cueto-Gonzalez AM, Franco-Valls H, Mort-Farre S, Roca-Ayats N, Ponomarenko J, Cozzuto L, Company C, Bosio M, Ossowski S, Montfort M, Hecht J, Tizzano EF, Cormand B, Vilageliu L, Opitz JM, Neri G, Grinberg D, Balcells S.&nbsp;<a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/28281571\/\" target=\"_blank\" rel=\"noreferrer noopener\">A De Novo Nonsense Mutation in MAGEL2 in a Patient Initially Diagnosed as Opitz-C: Similarities Between Schaaf-Yang and Opitz-C Syndromes<\/a>.&nbsp;2017. Sci Rep.<\/p>\n<\/div><\/div>\n\n\n\n<div class=\"wp-block-group\"><div class=\"wp-block-group__inner-container is-layout-constrained wp-block-group-is-layout-constrained\">\n<p class=\"wp-block-paragraph\">Slijkerman RW, Vach\u00e9 C, Dona M, Garc\u00eda-Garc\u00eda G, Claustres M, Hetterschijt L, Peters TA, Hartel BP, Pennings RJ, Millan JM, Aller E, Garanto A, Collin RW, Kremer H, Roux AF, Van Wijk E.&nbsp;<a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/27802265\/\" target=\"_blank\" rel=\"noreferrer noopener\">Antisense Oligonucleotide-based Splice Correction for USH2A-associated Retinal Degeneration Caused by a Frequent Deep-intronic Mutation<\/a>.&nbsp;2016. Mol Ther Nucleic Acids.<\/p>\n<\/div><\/div>\n\n\n\n<div class=\"wp-block-group\"><div class=\"wp-block-group__inner-container is-layout-constrained wp-block-group-is-layout-constrained\">\n<p class=\"wp-block-paragraph\">Corton M, Avila-Fern\u00e1ndez A, Campello L, S\u00e1nchez M, Benavides B, L\u00f3pez-Molina MI, Fern\u00e1ndez-S\u00e1nchez L, S\u00e1nchez-Alcudia R, da Silva LRJ, Reyes N, Mart\u00edn-Garrido E, Zurita O, Fern\u00e1ndez-San Jos\u00e9 P, P\u00e9rez-Carro R, Garc\u00eda-Garc\u00eda F, Dopazo J, Garc\u00eda-Sandoval B, Cuenca N, Ayuso C.&nbsp;<a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/27734943\/\" target=\"_blank\" rel=\"noreferrer noopener\">Identification of the Photoreceptor Transcriptional Co-Repressor SAMD11 as Novel Cause of Autosomal Recessive Retinitis Pigmentosa<\/a>.2016. Sci Rep.<\/p>\n<\/div><\/div>\n<\/div>\n\n\n\n<p class=\"mt-lg wp-block-paragraph\"><strong>Publicaciones de usuarios con muestras del CIBERER Biobank<\/strong><\/p>\n\n\n\n<div class=\"wp-block-group alignfull s-ventajas-2 is-layout-grid wp-container-core-group-is-layout-d969a5ad wp-block-group-is-layout-grid\">\n<div class=\"wp-block-group\"><div class=\"wp-block-group__inner-container is-layout-constrained wp-block-group-is-layout-constrained\">\n<p class=\"wp-block-paragraph\">Sanchez-Alcudia R, Garcia-Hoyos M, Lopez-Martinez MA, Sanchez-Bolivar N, Zurita O, Gimenez A, Villaverde C, Rodrigues-Jacy da Silva L, Corton M, Perez-Carro R, Torriano S, Kalatzis V, Rivolta C, Avila-Fernandez A, Lorda I, Trujillo-Tiebas MJ, Garcia-Sandoval B, Lopez-Molina MI, Blanco-Kelly F, Riveiro-Alvarez R, Ayuso C.&nbsp;<a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/27070432\/\" target=\"_blank\" rel=\"noreferrer noopener\">A Comprehensive Analysis of Choroideremia: From Genetic Characterization to Clinical Practice<\/a>. 2016. PLoS One<\/p>\n<\/div><\/div>\n\n\n\n<div class=\"wp-block-group\"><div class=\"wp-block-group__inner-container is-layout-constrained wp-block-group-is-layout-constrained\">\n<p class=\"wp-block-paragraph\">Perez-Carro R, Corton M, S\u00e1nchez-Navarro I, Zurita O, Sanchez-Bolivar N, S\u00e1nchez-Alcudia R, Lelieveld SH, Aller E, Lopez-Martinez MA, L\u00f3pez-Molina MI, Fernandez-San Jose P, Blanco-Kelly F, Riveiro-Alvarez R, Gilissen C, Millan JM, Avila-Fernandez A, Ayuso C.&nbsp;<a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/26806561\/\" target=\"_blank\" rel=\"noreferrer noopener\">Panel-based NGS Reveals Novel Pathogenic Mutations in Autosomal Recessive Retinitis Pigmentosa<\/a>. 2016. Scientific Reports &#8211; Nature<\/p>\n<\/div><\/div>\n\n\n\n<div class=\"wp-block-group\"><div class=\"wp-block-group__inner-container is-layout-constrained wp-block-group-is-layout-constrained\">\n<p class=\"wp-block-paragraph\">Sevilla T, Lupo V, Mart\u00ednez-Rubio D, Sancho P, Sivera R, Chumillas MJ, Garc\u00eda-Romero M, Pascual-Pascual SI, Muelas N, Dopazo J, V\u00edlchez JJ, Palau F, Espin\u00f3s C. Mutations in the MORC2 gene cause axonal Charcot-Marie-Tooth disease. 2016 Brain<\/p>\n<\/div><\/div>\n\n\n\n<div class=\"wp-block-group\"><div class=\"wp-block-group__inner-container is-layout-constrained wp-block-group-is-layout-constrained\">\n<p class=\"wp-block-paragraph\">Corton M, Nishiguchi KM, Avila-Fern\u00e1ndez A, Nikopoulos K, Riveiro-Alvarez R, Tatu SD, Ayuso C, Rivolta C.&nbsp;<a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/27031522\/\" target=\"_blank\" rel=\"noreferrer noopener\">Exome sequencing of index patients with retinal dystrophies as a tool for molecular diagnosis<\/a>. 2016 PLoS One.<\/p>\n<\/div><\/div>\n\n\n\n<div class=\"wp-block-group\"><div class=\"wp-block-group__inner-container is-layout-constrained wp-block-group-is-layout-constrained\">\n<p class=\"wp-block-paragraph\">\u00c1lvarez R, Xie YA, L\u00f3pez-Mart\u00ednez M\u00c1, Gambin T, P\u00e9rez-Carro R, \u00c1vilaFern\u00e1ndez A, L\u00f3pez-Molina MI, Zernant J, Jhangiani S, Muzny D, Yuan B, Boerwinkle E, Gibbs R, Lupski JR, Ayuso C, Allikmets R.&nbsp;<a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/25356532\/\" target=\"_blank\" rel=\"noreferrer noopener\">New mutations in the RAB28 gene in 2 Spanish families with cone-rod dystrophy<\/a>. 2015 JAMA Ophthalmology<\/p>\n<\/div><\/div>\n\n\n\n<div class=\"wp-block-group\"><div class=\"wp-block-group__inner-container is-layout-constrained wp-block-group-is-layout-constrained\">\n<p class=\"wp-block-paragraph\">Fernandez-San Jose P, Corton M, Blanco-Kelly F, Avila-Fernandez A, Lopez-Martinez MA, Sanchez-Navarro I, Sanchez-Alcudia R, PerezCarro R, Zurita O, Sanchez-Bolivar N, LopezMolina MI, Garcia-Sandoval B, RiveiroAlvarez R, Ayuso C.&nbsp;<a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/25698705\/\" target=\"_blank\" rel=\"noreferrer noopener\">Targeted Next-Generation Sequencing Improves the Diagnosis of Autosomal Dominant Retinitis Pigmentosa in Spanish Patients<\/a>. 2015 Investigative Ophthalmology and Visual Science Riveiro<\/p>\n<\/div><\/div>\n\n\n\n<div class=\"wp-block-group\"><div class=\"wp-block-group__inner-container is-layout-constrained wp-block-group-is-layout-constrained\">\n<p class=\"wp-block-paragraph\">Avila-Fernandez A, Perez-Carro R, Corton M, Lopez-Molina MI, Campello L, Garanto A, Fernandez-Sanchez L, Duijkers L, LopezMartinez MA, Riveiro-Alvarez R, Da Silva LR, Sanchez-Alcudia R, Martin-Garrido E, Reyes N, Garcia-Garcia F, Dopazo J, Garcia-Sandoval B, Collin RW, Cuenca N, Ayuso C.&nbsp;<a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/25882705\/\" target=\"_blank\" rel=\"noreferrer noopener\">Whole-exome sequencing reveals ZNF408 as a new gene associated with autosomal recessive retinitis pigmentosa with vitreal alterations<\/a>. 2015 Hum Mol Genet 5<\/p>\n<\/div><\/div>\n\n\n\n<div class=\"wp-block-group\"><div class=\"wp-block-group__inner-container is-layout-constrained wp-block-group-is-layout-constrained\">\n<p class=\"wp-block-paragraph\">Sevilla T, Sivera R, Mart\u00ednez-Rubio D, Lupo V, Chumillas MJ, Calpena E, Dopazo J, V\u00edlchez JJ, Palau F, Espin\u00f3s C.&nbsp;<a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/26204789\/\" target=\"_blank\" rel=\"noreferrer noopener\">The EGR2 gene is involved in axonal Charcot-Marie-Tooth disease<\/a>. 2015 Eur J Neurol<\/p>\n<\/div><\/div>\n\n\n\n<div class=\"wp-block-group\"><div class=\"wp-block-group__inner-container is-layout-constrained wp-block-group-is-layout-constrained\">\n<p class=\"wp-block-paragraph\">Pla-Mart\u00edn D, Calpena E, Lupo V, M\u00e1rquez C, Rivas E, Sivera R, Sevilla T, Palau F, Espin\u00f3s C.&nbsp;<a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/25168384\/\" target=\"_blank\" rel=\"noreferrer noopener\">Junctophilin-1 is a modifier gene of GDAP1-related Charcot-Marie-Tooth disease<\/a>. 2015 Hum Mol Genet<\/p>\n<\/div><\/div>\n\n\n\n<div class=\"wp-block-group\"><div class=\"wp-block-group__inner-container is-layout-constrained wp-block-group-is-layout-constrained\">\n<p class=\"wp-block-paragraph\">Almoguera B, Li J, Fernandez-San Jose P, Liu Y, March M, Pellegrino R, Golhar R, Corton M, Blanco-Kelly F, L\u00f3pez-Molina MI, Garc\u00edaSandoval B, Guo Y, Tian L, Liu X, Guan L, Zhang J, Keating B, Xu X, Hakonarson H, Ayuso C.&nbsp;<a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/26197217\/\" target=\"_blank\" rel=\"noreferrer noopener\">Application of Whole Exome Sequencing in Six Families with an Initial Diagnosis of Autosomal Dominant Retinitis Pigmentosa: Lessons Learned<\/a>. 2015 PLoS One<\/p>\n<\/div><\/div>\n\n\n\n<div class=\"wp-block-group\"><div class=\"wp-block-group__inner-container is-layout-constrained wp-block-group-is-layout-constrained\">\n<p class=\"wp-block-paragraph\">Lukovic D, Artero Castro A, Delgado AB, Bernal Mde L, Luna Pelaez N, D\u00edez Lloret A, Perez Espejo R, Kamenarova K, Fern\u00e1ndez S\u00e1nchez L, Cuenca N, Cort\u00f3n M, Avila Fernandez A, Sorkio A, Skottman H, Ayuso C, Erceg S, Bhattacharya SS.&nbsp;<a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/26263531\/\" target=\"_blank\" rel=\"noreferrer noopener\">Human iPSC derived disease model of MERTK-associated retinitis pigmentosa<\/a>. 2015 Scientific Reports &#8211; Nature<\/p>\n<\/div><\/div>\n\n\n\n<div class=\"wp-block-group\"><div class=\"wp-block-group__inner-container is-layout-constrained wp-block-group-is-layout-constrained\">\n<p class=\"wp-block-paragraph\">Lupo, V ; Garcia-Garcia, F; Sancho, P ; Tello, C; Garcia-Romero, M; Villarreal, L; Alberti, A; Sivera, R; Dopazo, J ; Pascual-Pascual, SI; Marquez-Infante, C; Casasnovas, C; Sevilla, T; Espinos, C.&nbsp;<a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/26752306\/\" target=\"_blank\" rel=\"noreferrer noopener\">Assessment of Targeted Next-Generation Sequencing as a Tool for the Diagnosis of Charcot-Marie-Tooth Disease and Hereditary Motor Neuropathy<\/a>. 2016 J Mol Diagn<\/p>\n<\/div><\/div>\n\n\n\n<div class=\"wp-block-group\"><div class=\"wp-block-group__inner-container is-layout-constrained wp-block-group-is-layout-constrained\">\n<p class=\"wp-block-paragraph\">Vincenzo Lupo, Samuel I Pascual-Pascual, Manuel Guti\u00e9rrez-Molina, Gonzalo MateoMart\u00ednez, Carmen Espin\u00f3s, Gema ArriolaPereda.&nbsp;<a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/25694466\/\" target=\"_blank\" rel=\"noreferrer noopener\">Complexity of the phenotypes due to mutations in the MPZ gene: Clinical and cellular characterization of the MPZ p.D90E mutation<\/a>. 2014<\/p>\n<\/div><\/div>\n\n\n\n<div class=\"wp-block-group\"><div class=\"wp-block-group__inner-container is-layout-constrained wp-block-group-is-layout-constrained\">\n<p class=\"wp-block-paragraph\">Berta Almoguera, Sijie He, Marta Corton, Patricia Fernandez-San Jose, Fiona BlancoKelly, Maria Isabel L\u00f3pez-Molina, Blanca Garc\u00eda-Sandoval, Javier del Val, Yiran Guo, Lifeng Tian, Xuanzhu Liu, Liping Guan, Rosa J Torres, Juan G Puig, Hakon Hakonarson, Xun Xu, Brendan Keating and Carmen Ayuso.&nbsp;<a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/?term=\" target=\"_blank\" rel=\"noreferrer noopener\">Expanding the phenotype of PRPS1 syndromes in females: neuropathy, hearing loss and retinopathy<\/a>. 2014<\/p>\n<\/div><\/div>\n\n\n\n<div class=\"wp-block-group\"><div class=\"wp-block-group__inner-container is-layout-constrained wp-block-group-is-layout-constrained\">\n<p class=\"wp-block-paragraph\">Benaglio P, San Jose PF, Avila-Fernandez A, Ascari G, Harper S, Manes G, Ayuso C, Hamel C, Berson EL, Rivolta C.&nbsp;<a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/24959063\/\" target=\"_blank\" rel=\"noreferrer noopener\">Mutational screening of splicing factor genes in cases with autosomal dominant retinitis pigmentosa<\/a>. 2014<\/p>\n<\/div><\/div>\n\n\n\n<div class=\"wp-block-group wp-container-content-4471a044\"><div class=\"wp-block-group__inner-container is-layout-constrained wp-block-group-is-layout-constrained\">\n<p class=\"wp-block-paragraph\">Zernant J, Xie YA, Ayuso C, Riveiro-Alvarez R, Lopez-Martinez MA, Simonelli F, Testa F, Gorin MB, Strom SP, Bertelsen M, Rosenberg T, Boone PM, Yuan B, Ayyagari R, Nagy PL, Tsang SH, Gouras P, Collison FT, Lupski JR, Fishman GA, Allikmets R.<a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/?term=\" target=\"_blank\" rel=\"noreferrer noopener\">&nbsp;Analysis of the ABCA4 genomic locus in Stargardt disease<\/a>. 2014<\/p>\n<\/div><\/div>\n\n\n\n<div class=\"wp-block-group\"><div class=\"wp-block-group__inner-container is-layout-constrained wp-block-group-is-layout-constrained\">\n<p class=\"wp-block-paragraph\">Eduardo Calpena, Dolores Mart\u00ednez-Rubio, Javier Arpa, Juan J Garc\u00eda-Pe\u00f1as, David Montaner D, Joaqu\u00edn Dopazo, Francesc Palau, Carmen Espin\u00f3s.&nbsp;<a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/24878226\/\" target=\"_blank\" rel=\"noreferrer noopener\">A novel locus for a hereditary recurrent neuropathy on chromosome 21q21<\/a>. 2014<\/p>\n<\/div><\/div>\n\n\n\n<div class=\"wp-block-group\"><div class=\"wp-block-group__inner-container is-layout-constrained wp-block-group-is-layout-constrained\">\n<p class=\"wp-block-paragraph\">Nishiguchi KM, Avila-Fernandez A, van Huet RA, Corton M, P\u00e9rez-Carro R, Mart\u00edn-Garrido E, L\u00f3pez-Molina MI, Blanco-Kelly F, Hoefsloot LH, van Zelst-Stams WA, Garc\u00eda-Ruiz PJ, Del Val J, Di Gioia SA, Klevering BJ, van de Warrenburg BP, Vazquez C, Cremers FP, Garc\u00eda-Sandoval B, Hoyng CB, Collin RW, Rivolta C, Ayuso C.&nbsp;<a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/24697911\/\" target=\"_blank\" rel=\"noreferrer noopener\">Exome sequencing extends the phenotypic spectrum for ABHD12 mutations: from syndromic to nonsyndromic retinal degeneration<\/a>.2014<\/p>\n<\/div><\/div>\n<\/div>\n<\/div>\n<\/div>\n<\/div>\n<\/div>\n","protected":false},"excerpt":{"rendered":"<p>NUESTRA DOCUMENTACI\u00d3N El Sistema de Gesti\u00f3n de Calidad El Sistema de Gesti\u00f3n de Calidad (SGC) es\u00a0un\u00a0conjunto de pol\u00edticas, procesos y procedimientos\u00a0que\u00a0utilizamos en el biobanco\u00a0para asegurar que\u00a0nuestros\u00a0productos o servicios cumplen de forma consistente con la normativa aplicable,\u00a0con los requisitos de\u00a0los investigadores\u00a0y para mejorar continuamente\u00a0nuestra actividad que es la gesti\u00f3n de muestras humanas.\u00a0Para los\u00a0biobancos, la calidad no&hellip; <a class=\"more-link\" href=\"https:\/\/biobank.buleboo-estudio.net\/en\/documentation\/\">Continue reading <span class=\"screen-reader-text\">Documentation<\/span><\/a><\/p>\n","protected":false},"author":1,"featured_media":0,"parent":0,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"","meta":{"_acf_changed":false,"inline_featured_image":false,"footnotes":""},"class_list":["post-20182","page","type-page","status-publish","hentry","entry"],"acf":[],"_links":{"self":[{"href":"https:\/\/biobank.buleboo-estudio.net\/en\/wp-json\/wp\/v2\/pages\/20182","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/biobank.buleboo-estudio.net\/en\/wp-json\/wp\/v2\/pages"}],"about":[{"href":"https:\/\/biobank.buleboo-estudio.net\/en\/wp-json\/wp\/v2\/types\/page"}],"author":[{"embeddable":true,"href":"https:\/\/biobank.buleboo-estudio.net\/en\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/biobank.buleboo-estudio.net\/en\/wp-json\/wp\/v2\/comments?post=20182"}],"version-history":[{"count":1,"href":"https:\/\/biobank.buleboo-estudio.net\/en\/wp-json\/wp\/v2\/pages\/20182\/revisions"}],"predecessor-version":[{"id":20192,"href":"https:\/\/biobank.buleboo-estudio.net\/en\/wp-json\/wp\/v2\/pages\/20182\/revisions\/20192"}],"wp:attachment":[{"href":"https:\/\/biobank.buleboo-estudio.net\/en\/wp-json\/wp\/v2\/media?parent=20182"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}