✦ LIBER ✦

Exclusion ofPITX2 mutations as a major cause of CHARGE association

✍ Scribed by Martin, Donna M. ;Probst, Frank J. ;Fox, Sharon E. ;Schimmenti, Lisa A. ;Semina, Elena V. ;Hefner, Margaret A. ;Belmont, John W. ;Camper, Sally A.

Publisher: John Wiley and Sons
Year: 2002
Tongue: English
Weight: 66 KB
Volume: 111
Category: Article
ISSN: 0148-7299
DOI: 10.1002/ajmg.10473

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Exclusion of growth factor gene mutation

Exclusion of growth factor gene mutations as a common cause of Sotos syndrome

✍ Lin, Angela E. ;Liu, Qing ;Mannheim, Glenn B. ;Darras, Basil T. 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 66 KB 👁 2 views

Exclusion of mutations in theMTMR1 gene

Exclusion of mutations in theMTMR1 gene as a frequent cause of X-linked myotubular myopathy

✍ Copley, LaRae M. ;Zhao, Wei D. ;Kopacz, Kevin ;Herman, Gail E. ;Kioschis, Petra 📂 Article 📅 2002 🏛 John Wiley and Sons 🌐 English ⚖ 80 KB 👁 2 views

GJB2 (connexin 26) mutations are not a m

GJB2 (connexin 26) mutations are not a major cause of hearing loss in the Indonesian population

✍ Rikkert L. Snoeckx; Bulantrisna Djelantik; Lut Van Laer; Paul Van de Heyning; Gu 📂 Article 📅 2005 🏛 John Wiley and Sons 🌐 English ⚖ 66 KB 👁 2 views

Novel biallelic mutations in MSH6 and PM

Novel biallelic mutations in MSH6 and PMS2 genes: gene conversion as a likely cause of PMS2 gene inactivation

✍ Jessie Auclair; Dominique Leroux; Françoise Desseigne; Christine Lasset; Jean Ch 📂 Article 📅 2007 🏛 John Wiley and Sons 🌐 English ⚖ 413 KB

A homozygous mutation in RNU4ATAC as a c

A homozygous mutation in RNU4ATAC as a cause of microcephalic osteodysplastic primordial dwarfism type I (MOPD I) with associated pigmentary disorder

✍ Ghada M.H. Abdel-Salam; Noriko Miyake; Maha M. Eid; Mohamed S. Abdel-Hamid; Niha 📂 Article 📅 2011 🏛 John Wiley and Sons 🌐 English ⚖ 347 KB 👁 2 views

Exclusion of non-synonymous SNPs and a p

Exclusion of non-synonymous SNPs and a polyglutamine tract in SMRT/N-CoR2 as common deleterious mutation for bipolar disorder in the Sagnenay-Lac-St-Jean population

✍ Eric Shink; Mario Harvey; Monique Tremblay; Catherine Raymond; Michel Labbé; Ber 📂 Article 📅 2005 🏛 John Wiley and Sons 🌐 English ⚖ 51 KB 👁 1 views