X-exome sequencing in Finnish families with Intellectual Disability - four novel mutations and two novel syndromic phenotypes

BACKGROUND: X-linked intellectual disability (XLID) is a group of genetically heterogeneous disorders characterized by substantial impairment in cognitive abilities, social and behavioral adaptive skills. Next generation sequencing technologies have become a powerful approach for identifying molecul...

全面介紹

Na minha lista:
書目詳細資料
Main Authors: Philips, Anju K, Sirén, Auli, Avela, Kristiina, Somer, Mirja, Peippo, Maarit, Ahvenainen, Minna, Doagu, Fatma, Arvio, Maria, Kääriäinen, Helena, Van Esch, Hilde, Froyen, Guy, Haas, Stefan A, Hu, Hao, Kalscheuer, Vera M, Järvelä, Irma
格式: Artigo
語言:Inglês
出版: BioMed Central 2014
主題:
Research
在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC4022384/
https://ncbi.nlm.nih.gov/pubmed/24721225
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1750-1172-9-49
標簽: 添加標簽
沒有標簽, 成為第一個標記此記錄!

相似書籍