✦ LIBER ✦

The spectrum of ocular phenotypes caused by mutations in the BEST1 gene

✍ Scribed by Camiel J.F. Boon; B. Jeroen Klevering; Bart P. Leroy; Carel B. Hoyng; Jan E.E. Keunen; Anneke I. den Hollander

Book ID: 113861551
Publisher: Elsevier Science
Year: 2009
Tongue: English
Weight: 961 KB
Volume: 28
Category: Article
ISSN: 1350-9462
DOI: 10.1016/j.preteyeres.2009.04.002

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

The spectrum of retinal phenotypes cause

The spectrum of retinal phenotypes caused by mutations in theABCA4gene

✍ B. Jeroen Klevering; August F. Deutman; Alessandra Maugeri; Frans P. M. Cremers; 📂 Article 📅 2004 🏛 Springer-Verlag 🌐 English ⚖ 264 KB

Expansion of the phenotypic spectrum of

Expansion of the phenotypic spectrum of SPG6 caused by mutation in NIPA1

✍ Juan Du; Ya-cen Hu; Bei-sha Tang; Chong Chen; Ying-ying Luo; Zi-xiong Zhan; Guo- 📂 Article 📅 2011 🏛 Elsevier Science 🌐 English ⚖ 286 KB

The spectrum of hypopituitarism caused b

The spectrum of hypopituitarism caused by PROP1 mutations

✍ Sushil Mody; Milton R Brown; John S Parks 📂 Article 📅 2002 🏛 Elsevier Science 🌐 English ⚖ 541 KB

Mutations in the Human UBR1 Gene and the

Mutations in the Human UBR1 Gene and the Associated Phenotypic Spectrum

✍ Sukalo, Maja; Fiedler, Ariane; Guzmán, Celina; Spranger, Stephanie; Addor, Marie 📂 Article 📅 2014 🏛 John Wiley and Sons 🌐 English ⚖ 557 KB

Mutations in the Myosin VIIA Gene Cause

Mutations in the Myosin VIIA Gene Cause a Wide Phenotypic Spectrum, Including Atypical Usher Syndrome

✍ Xue-Zhong Liu; Carolyn Hope; James Walsh; Valerie Newton; Xiao Mei Ke; Chuan Yu 📂 Article 📅 1998 🏛 American Society of Human Genetics 🌐 English ⚖ 274 KB

C.P.13 The clinical spectrum of entities

C.P.13 The clinical spectrum of entities caused by mutations in the nebulin gene

✍ Lehtokari, V.L.; Kiiski, K.; Pelin, K.; Wallgren-Pettersson, C. 📂 Article 📅 2012 🏛 Elsevier Science 🌐 English ⚖ 63 KB