✦ LIBER ✦

Exome Sequencing Identifies FUS Mutations as a Cause of Essential Tremor

✍ Scribed by Nancy D. Merner; Simon L. Girard; Hélène Catoire; Cynthia V. Bourassa; Véronique V. Belzil; Jean-Baptiste Rivière; Pascale Hince; Annie Levert; Alexandre Dionne-Laporte; Dan Spiegelman; Anne Noreau; Sabrina Diab; Anna Szuto; Hélène Fournier; John Raelson; Majid Belouchi; Michel Panisset; Patrick Cossette; Nicolas Dupré; Geneviève Bernard; Sylvain Chouinard; Patrick A. Dion; Guy A. Rouleau

Book ID: 119184354
Publisher: American Society of Human Genetics
Year: 2012
Tongue: English
Weight: 488 KB
Volume: 91
Category: Article
ISSN: 0002-9297
DOI: 10.1016/j.ajhg.2012.07.002

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Exome Sequencing Identifies PDE4D Mutati

Exome Sequencing Identifies PDE4D Mutations as Another Cause of Acrodysostosis

✍ Caroline Michot; Carine Le Goff; Alice Goldenberg; Avinash Abhyankar; Céline Kle 📂 Article 📅 2012 🏛 American Society of Human Genetics 🌐 English ⚖ 253 KB

Exome sequencing identifies MLL2 mutatio

Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome

✍ Ng, Sarah B; Bigham, Abigail W; Buckingham, Kati J; Hannibal, Mark C; McMillin, 📂 Article 📅 2010 🏛 Nature Publishing Group 🌐 English ⚖ 520 KB

Exome Sequencing Identifies SLCO2A1 Muta

Exome Sequencing Identifies SLCO2A1 Mutations as a Cause of Primary Hypertrophic Osteoarthropathy

✍ Zhenlin Zhang; Weibo Xia; Jinwei He; Zeng Zhang; Yaohua Ke; Hua Yue; Chun Wang; 📂 Article 📅 2012 🏛 American Society of Human Genetics 🌐 English ⚖ 959 KB

Exome sequencing identifies ACAD9 mutati

Exome sequencing identifies ACAD9 mutations as a cause of complex I deficiency

✍ Haack, Tobias B; Danhauser, Katharina; Haberberger, Birgit; Hoser, Jonathan; Str 📂 Article 📅 2010 🏛 Nature Publishing Group 🌐 English ⚖ 478 KB

Exome sequencing identifies NMNAT1 mutat

Exome sequencing identifies NMNAT1 mutations as a cause of Leber congenital amaurosis

✍ Chiang, Pei-Wen; Wang, Juan; Chen, Yang; Fu, Quan; Zhong, Jing; Chen, Yanhua; Yi 📂 Article 📅 2012 🏛 Nature Publishing Group 🌐 English ⚖ 217 KB

Exome sequencing identifies the cause of

Exome sequencing identifies the cause of a mendelian disorder

✍ Ng, Sarah B; Buckingham, Kati J; Lee, Choli; Bigham, Abigail W; Tabor, Holly K; 📂 Article 📅 2009 🏛 Nature Publishing Group 🌐 English ⚖ 347 KB