✦ LIBER ✦

Copy number variants are a common cause of non-syndromic hearing loss

✍ Scribed by A Eliot Shearer,Diana L Kolbe,Hela Azaiez,Christina M Sloan…

Book ID: 126389704
Publisher: BioMed Central
Year: 2014
Tongue: English
Weight: 434 KB
Volume: 6
Category: Article
ISSN: 1756-994X
DOI: 10.1186/gm554

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Copy-Number Disorders Are a Common Cause

Copy-Number Disorders Are a Common Cause of Congenital Kidney Malformations

✍ Simone Sanna-Cherchi; Krzysztof Kiryluk; Katelyn E. Burgess; Monica Bodria; Matt 📂 Article 📅 2012 🏛 American Society of Human Genetics 🌐 English ⚖ 265 KB

Copy number variations are a rare cause

Copy number variations are a rare cause of non-CMT1A Charcot-Marie-Tooth disease

✍ Jia Huang; Xingyao Wu; Gladys Montenegro; Justin Price; Gaofeng Wang; Jeffery M. 📂 Article 📅 2009 🏛 Springer 🌐 English ⚖ 512 KB

Mutations in the first MyTH4 domain of M

Mutations in the first MyTH4 domain of MYO15A are a common cause of DFNB3 hearing loss

✍ A. Eliot Shearer; Michael S. Hildebrand; Jennifer A. Webster; Kimia Kahrizi; Nic 📂 Article 📅 2009 🏛 John Wiley and Sons 🌐 English ⚖ 679 KB

## Abstract ## Objectives. To use clinical and genetic analyses to determine the mutation causing autosomal recessive nonsyndromic hearing loss (ARNSHL) segregating in two consanguineous Iranian families. ## Study Design. Family study. ## Methods. Members of each family received otologic and a

A non-syndromic hearing loss caused by v

A non-syndromic hearing loss caused by very low levels of the mtDNA A3243G mutation

✍ M. Mancuso; M. Filosto; F. Forli; A. Rocchi; S. Berrettini; G. Siciliano; L. Mur 📂 Article 📅 2004 🏛 John Wiley and Sons 🌐 English ⚖ 97 KB

Exon copy number alterations of the CHD7

Exon copy number alterations of the CHD7 gene are not a major cause of CHARGE and CHARGE-like syndrome

✍ Jorieke E.H. Bergman; Ilse de Wijs; Marjolijn C.J. Jongmans; Ronald J. Admiraal; 📂 Article 📅 2008 🏛 Elsevier Science 🌐 English ⚖ 364 KB

The common MTHFR C677T and A1298C varian

The common MTHFR C677T and A1298C variants are not associated with the risk of non-syndromic cleft lip/palate in northern Venezuela

✍ Mehmet A. Sözen; Marie M. Tolarova; Richard A. Spritz 📂 Article 📅 2009 🏛 Elsevier 🌐 Chinese ⚖ 198 KB