✦ LIBER ✦

Whole exome sequencing identifies a splicing mutation in NSUN2 as a cause of a Dubowitz-like syndrome

✍ Scribed by Martinez, F. J.; Lee, J. H.; Lee, J. E.; Blanco, S.; Nickerson, E.; Gabriel, S.; Frye, M.; Al-Gazali, L.; Gleeson, J. G.

Book ID: 125441640
Publisher: BMJ Publishing Group
Year: 2012
Tongue: English
Weight: 613 KB
Volume: 49
Category: Article
ISSN: 0022-2593
DOI: 10.1136/jmedgenet-2011-100686

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

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 a novel muta

Exome sequencing identifies a novel mutation in PIK3R1 as the cause of SHORT syndrome

✍ Bárcena, Clea; Quesada, Víctor; De Sandre-Giovannoli, Annachiara; Puente, Diana 📂 Article 📅 2014 🏛 BioMed Central 🌐 English ⚖ 548 KB

Exome sequencing identifies a recessive

Exome sequencing identifies a recessive PIGN splice site mutation as a cause of syndromic Congenital Diaphragmatic Hernia

✍ Brady, P.D.; Moerman, Philippe; De Catte, Luc; Deprest, J.; Devriendt, K.; Verme 📂 Article 📅 2014 🏛 Elsevier Science 🌐 English ⚖ 621 KB

Whole-Exome Sequencing Identifies FAM20A

Whole-Exome Sequencing Identifies FAM20A Mutations as a Cause of Amelogenesis Imperfecta and Gingival Hyperplasia Syndrome

✍ James O'Sullivan; Carolina C. Bitu; Sarah B. Daly; Jill E. Urquhart; Martin J. B 📂 Article 📅 2011 🏛 American Society of Human Genetics 🌐 English ⚖ 660 KB

Exome Sequencing and Functional Analysis

Exome Sequencing and Functional Analysis Identifies BANF1 Mutation as the Cause of a Hereditary Progeroid Syndrome

✍ Xose S. Puente; Victor Quesada; Fernando G. Osorio; Rubén Cabanillas; Juan Cadiñ 📂 Article 📅 2011 🏛 American Society of Human Genetics 🌐 English ⚖ 922 KB

Exome Sequencing Identifies FUS Mutation

Exome Sequencing Identifies FUS Mutations as a Cause of Essential Tremor

✍ Nancy D. Merner; Simon L. Girard; Hélène Catoire; Cynthia V. Bourassa; Véronique 📂 Article 📅 2012 🏛 American Society of Human Genetics 🌐 English ⚖ 488 KB