✦ LIBER ✦

Novel CHD7 mutations contributing to the mutation spectrum in patients with CHARGE syndrome

✍ Scribed by Kathrin Wessels; Bettina Bohnhorst; Ingrid Luhmer; Susanne Morlot; Axel Bohring; Jon Jonasson; Jörg T. Epplen; Dorothea Gadzicki; Stefanie Glaser; Gudrun Göhring; Madeleine Mälzer; Anke Hein; Mine Arslan-Kirchner; Manfred Stuhrmann; Jörg Schmidtke; Brigitte Pabst

Book ID: 116433286
Publisher: Elsevier Science
Year: 2010
Tongue: English
Weight: 176 KB
Volume: 53
Category: Article
ISSN: 1769-7212
DOI: 10.1016/j.ejmg.2010.07.002

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Phenotypic spectrum of CHARGE syndrome w

Phenotypic spectrum of CHARGE syndrome with CHD7 mutations

✍ Michihiko Aramaki; Toru Udaka; Rika Kosaki; Yoshio Makita; Nobuhiko Okamoto; Hir 📂 Article 📅 2006 🏛 Elsevier Science 🌐 English ⚖ 192 KB

CHD7 mutation spectrum in 28 Swedish pat

CHD7 mutation spectrum in 28 Swedish patients diagnosed with CHARGE syndrome

✍ J Wincent; E Holmberg; K Strömland; M Soller; L Mirzaei; T Djureinovic; KL Robin 📂 Article 📅 2008 🏛 John Wiley and Sons 🌐 English ⚖ 153 KB

321 Congenital heart defects in CHARGE s

321 Congenital heart defects in CHARGE syndrome patients with CHD7 mutations

✍ Pauline Parisot; Fanny Bajolle; Tania Attié-Bittach; Sophie Thomas; Géraldine Go 📂 Article 📅 2010 🏛 Elsevier 🌐 English ⚖ 99 KB

CHD7 mutations in patients initially dia

CHD7 mutations in patients initially diagnosed with Kallmann syndrome – the clinical overlap with CHARGE syndrome

✍ MCJ Jongmans; CMA Van Ravenswaaij-Arts; N Pitteloud; T Ogata; N Sato; HL Claahse 📂 Article 📅 2009 🏛 John Wiley and Sons 🌐 English ⚖ 116 KB

Spectrum of CHD7 Mutations in 110 Indivi

Spectrum of CHD7 Mutations in 110 Individuals with CHARGE Syndrome and Genotype-Phenotype Correlation

✍ Seema R. Lalani; Arsalan M. Safiullah; Susan D. Fernbach; Karine G. Harutyunyan; 📂 Article 📅 2006 🏛 American Society of Human Genetics 🌐 English ⚖ 538 KB

Mutation update on the CHD7 gene involve

Mutation update on the CHD7 gene involved in CHARGE syndrome

✍ Nicole Janssen; Jorieke E. H. Bergman; Morris A. Swertz; Lisbeth Tranebjaerg; Ma 📂 Article 📅 2012 🏛 John Wiley and Sons 🌐 English ⚖ 348 KB