✦ LIBER ✦

Exome Sequencing Reveals Mutations in TRPV3 as a Cause of Olmsted Syndrome

✍ Scribed by Zhimiao Lin; Quan Chen; Mingyang Lee; Xu Cao; Jie Zhang; Donglai Ma; Long Chen; Xiaoping Hu; Huijun Wang; Xiaowen Wang; Peng Zhang; Xuanzhu Liu; Liping Guan; Yiquan Tang; Haizhen Yang; Ping Tu; Dingfang Bu; Xuejun Zhu; KeWei Wang; Ruoyu Li; Yong Yang

Book ID: 113423188
Publisher: American Society of Human Genetics
Year: 2012
Tongue: English
Weight: 934 KB
Volume: 90
Category: Article
ISSN: 0002-9297
DOI: 10.1016/j.ajhg.2012.02.006

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Exome Sequencing Reveals VCP Mutations a

Exome Sequencing Reveals VCP Mutations as a Cause of Familial ALS

✍ Janel O. Johnson; Jessica Mandrioli; Michael Benatar; Yevgeniya Abramzon; Vivian 📂 Article 📅 2010 🏛 Elsevier Science 🌐 English ⚖ 906 KB

Exome Sequencing Reveals VCP Mutations a

Exome Sequencing Reveals VCP Mutations as a Cause of Familial ALS

✍ Janel O. Johnson; Jessica Mandrioli; Michael Benatar; Yevgeniya Abramzon; Vivian 📂 Article 📅 2011 🏛 Elsevier Science 🌐 English ⚖ 36 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 INPPL1 Mutat

Exome Sequencing Identifies INPPL1 Mutations as a Cause of Opsismodysplasia

✍ Huber, Céline; Faqeih, Eissa Ali; Bartholdi, Deborah; Bole-Feysot, Christine; Bo 📂 Article 📅 2013 🏛 American Society of Human Genetics 🌐 English ⚖ 310 KB

Whole-Exome Sequencing Reveals IKBKB As

Whole-Exome Sequencing Reveals IKBKB As a Cause of Combined Immunodeficiency

✍ Mousallem, Talal; Yang, Jialong; Urban, Thomas J.; Wang, Hongxia; Parrott, Rober 📂 Article 📅 2014 🏛 Elsevier Science 🌐 English ⚖ 42 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