Genomic imbalances defining novel intellectual disability associated loci

BACKGROUND: High resolution genome-wide copy number analysis, routinely used in clinical diagnosis for several years, retrieves new and extremely rare copy number variations (CNVs) that provide novel candidate genes contributing to disease etiology. The aim of this work was to identify novel genetic...

תיאור מלא

שמור ב:
מידע ביבליוגרפי
הוצא לאור ב:Orphanet J Rare Dis
Main Authors: Lopes, Fátima, Torres, Fátima, Soares, Gabriela, Barbosa, Mafalda, Silva, João, Duque, Frederico, Rocha, Miguel, Sá, Joaquim, Oliveira, Guiomar, Sá, Maria João, Temudo, Teresa, Sousa, Susana, Marques, Carla, Lopes, Sofia, Gomes, Catarina, Barros, Gisela, Jorge, Arminda, Rocha, Felisbela, Martins, Cecília, Mesquita, Sandra, Loureiro, Susana, Cardoso, Elisa Maria, Cálix, Maria José, Dias, Andreia, Martins, Cristina, Mota, Céu R., Antunes, Diana, Dupont, Juliette, Figueiredo, Sara, Figueiroa, Sónia, Gama-de-Sousa, Susana, Cruz, Sara, Sampaio, Adriana, Eijk, Paul, Weiss, Marjan M., Ylstra, Bauke, Rendeiro, Paula, Tavares, Purificação, Reis-Lima, Margarida, Pinto-Basto, Jorge, Fortuna, Ana Maria, Maciel, Patrícia
פורמט: Artigo
שפה:Inglês
יצא לאור: BioMed Central 2019
נושאים:
Research
גישה מקוונת:https://ncbi.nlm.nih.gov/pmc/articles/PMC6612161/
https://ncbi.nlm.nih.gov/pubmed/31277718
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-019-1135-0
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