المؤلفون: V.E.F. Montaño, Susana Noval, B. Jimenez-Rolando, Rubén Martín-Arenas, Carlos Ibáñez, Elena Vallespín, J.C. Silla, A. del Pozo, I. Rosa-Perez, E. Mata Diaz

المصدر: Archivos de la Sociedad Española de Oftalmología (English Edition). 93:119-125

مصطلحات موضوعية: 0301 basic medicine, Genetics, genetic structures, biology, business.industry, ABCA4, General Medicine, Disease, Macular dystrophy, Bioinformatics, eye diseases, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, Mutation (genetic algorithm), 030221 ophthalmology & optometry, biology.protein, Eye disorder, Medicine, Allelic heterogeneity, business, Gene, Exome sequencing

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::02be75e675fff4d66365dbdec17804ceTest
https://doi.org/10.1016/j.oftale.2017.06.004Test

المؤلفون: Maria Orera, María Ángeles Mori, Elena Vallespín, Chad R. Haldeman-Englert, Alberto Fernández-Jaén, Xia Li, Alberto Plaja, Lani Devaney, María Palomares-Bralo, Alicia Delicado, Rubén Martín-Arenas, Salmo Raskin, Stephanie E. Vallee, Esther Corbacho-Fernández, Rocío Mena, Miguel Del Campo, Jay W. Ellison, Holly Dubbs, Jill A. Rosenfeld, Fernando Santos-Simarro, Sixto García-Miñaur, Sulagna C. Saitta, Lluís Armengol, M. Carmen Crespo, Carlos A. Venegas-Vega, Inmaculada Rueda-Arenas, Jair Tenorio, Victoria E. Fernandez-Montano, Fernando Fernández-Ramírez, Karen W. Gripp, Blanca Marín Fernández, María Luisa de Torres, Pablo Lapunzina, Gordon C. Gowans, Elizabeth Denenberg, Julián Nevado, M Carmen Sanchez-Hombre, Mary Beth Dinulos, Duban B Bénédicte

المصدر: Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid

مصطلحات موضوعية: Male, Microcephaly, Candidate gene, Developmental Disabilities, MAP Kinase Kinase 2, MAP2K2, Biology, Bioinformatics, Article, Gene duplication, Chromosome Duplication, Genetics, medicine, Humans, Megalencephaly, Child, Poly-ADP-Ribose Binding Proteins, Genetics (clinical), Macrocephaly, Infant, Syndrome, medicine.disease, Protein Inhibitors of Activated STAT, Hypotonia, DNA-Binding Proteins, Child, Preschool, Speech delay, Female, medicine.symptom, Chromosome Deletion, Chromosomes, Human, Pair 19, Transcription Factors

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::acda0a94c6bcf36efa06bb9657b508d7Test
https://pubmed.ncbi.nlm.nih.gov/25853300Test