✦ LIBER ✦

De Novo SYNGAP1 Mutations in Nonsyndromic Intellectual Disability and Autism

✍ Scribed by Fadi F. Hamdan; Hussein Daoud; Amélie Piton; Julie Gauthier; Sylvia Dobrzeniecka; Marie-Odile Krebs; Ridha Joober; Jean-Claude Lacaille; Amélie Nadeau; Jeff M. Milunsky; Zhenyuan Wang; Lionel Carmant; Laurent Mottron; Miriam H. Beauchamp; Guy A. Rouleau; Jacques L. Michaud

Book ID: 119198811
Publisher: Elsevier Science
Year: 2011
Tongue: English
Weight: 355 KB
Volume: 69
Category: Article
ISSN: 0006-3223
DOI: 10.1016/j.biopsych.2010.11.015

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

De Novo Mutations in FOXP1 in Cases with

De Novo Mutations in FOXP1 in Cases with Intellectual Disability, Autism, and Language Impairment

✍ Fadi F. Hamdan; Hussein Daoud; Daniel Rochefort; Amélie Piton; Julie Gauthier; M 📂 Article 📅 2010 🏛 American Society of Human Genetics 🌐 English ⚖ 670 KB

De novo autosomal dominant mutation in S

De novo autosomal dominant mutation in SYNGAP1

✍ Edwin H. Cook Jr 📂 Article 📅 2011 🏛 John Wiley and Sons 🌐 English ⚖ 64 KB

Mutations in SYNGAP1 Cause Intellectual

Mutations in SYNGAP1 Cause Intellectual Disability, Autism, and a Specific Form of Epilepsy by Inducing Haploinsufficiency

✍ Berryer, Martin H.; Hamdan, Fadi F.; Klitten, Laura L.; Møller, Rikke S.; Carman 📂 Article 📅 2012 🏛 John Wiley and Sons 🌐 English ⚖ 530 KB

Excess of De Novo Deleterious Mutations

Excess of De Novo Deleterious Mutations in Genes Associated with Glutamatergic Systems in Nonsyndromic Intellectual Disability

✍ Fadi F. Hamdan; Julie Gauthier; Yoichi Araki; Da-Ting Lin; Yuhki Yoshizawa; Kyoh 📂 Article 📅 2011 🏛 American Society of Human Genetics 🌐 English ⚖ 981 KB

Excess of De Novo Deleterious Mutations

Excess of De Novo Deleterious Mutations in Genes Associated with Glutamatergic Systems in Nonsyndromic Intellectual Disability

✍ Fadi F. Hamdan; Julie Gauthier; Yoichi Araki; Da-Ting Lin; Yuhki Yoshizawa; Kyoh 📂 Article 📅 2011 🏛 American Society of Human Genetics 🌐 English ⚖ 29 KB

A Noncoding, Regulatory Mutation Implica

A Noncoding, Regulatory Mutation Implicates HCFC1 in Nonsyndromic Intellectual Disability

✍ Lingli Huang; Lachlan A. Jolly; Saffron Willis-Owen; Alison Gardner; Raman Kumar 📂 Article 📅 2012 🏛 American Society of Human Genetics 🌐 English ⚖ 994 KB