المؤلفون: Alejandra Damián, Raluca Oancea Ionescu, Marta Rodríguez de Alba, Alejandra Tamayo, María José Trujillo-Tiebas, María Carmen Cotarelo-Pérez, Olga Pérez Rodríguez, Cristina Villaverde, Lorena de la Fuente, Raquel Romero, Gonzalo Núñez-Moreno, Pablo Mínguez, Carmen Ayuso, Marta Cortón

المصدر: International Journal of Molecular Sciences; Volume 22; Issue 23; Pages: 12713

مصطلحات موضوعية: congenital cataract, pericentric X inversion, NHS, Nance-Horan syndrome, structural variation (SV), whole-genome sequencing (WGS), chromosomal rearrangement, topologically associated domains (TADs), position effects

جغرافية الموضوع: agris

وصف الملف: application/pdf

Relation: Molecular Genetics and Genomics; https://dx.doi.org/10.3390/ijms222312713

الاتاحة: https://doi.org/10.3390/ijms222312713

المؤلفون: Victoria San Antonio-Arce MD, María Fenollar-Cortés PhD, Raluca Oancea Ionescu PhD, Teresa DeSantos-Moreno PhD, Jesús Gallego-Merlo, Francisco José Illana Cámara, María Carmen Cotarelo Pérez MD

المصدر: Child Neurology Open, Vol 3 (2016)

مصطلحات موضوعية: Pediatrics, RJ1-570, Neurology. Diseases of the nervous system, RC346-429

Relation: https://doi.org/10.1177/2329048X16630673; https://doaj.org/toc/2329-048X; https://doaj.org/article/4d858717c5b149de89bab1d32b0099ad

الاتاحة: https://doi.org/10.1177/2329048X16630673
https://doaj.org/article/4d858717c5b149de89bab1d32b0099ad

المؤلفون: Francisco José Illana Cámara, María Fenollar-Cortés, Jesús Gallego-Merlo, Teresa DeSantos-Moreno, Victoria San Antonio-Arce, Raluca Oancea Ionescu, María Carmen Cotarelo Pérez

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

مصطلحات موضوعية: 0301 basic medicine, Genetics, congenital, hereditary, and neonatal diseases and abnormalities, MECP2 duplication syndrome, phenotype, Xq28 microduplication including MECP2, General Medicine, 030105 genetics & heredity, MeCP2 Protein, Biology, medicine.disease, Phenotype, nervous system diseases, MECP2, Xq28, 03 medical and health sciences, chemistry.chemical_compound, female, 030104 developmental biology, chemistry, medicine, MECP2 gene, Penetrant (biochemical)

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f7fd0dc3de7a4f5ef8cdce99fc306cac
https://doi.org/10.1177/2329048x16630673