Opening book details…
About this book
Mutations in DOCK7 in Individuals with Epileptic Encephalopathy and Cortical Blindness by Isabelle Perrault & Fadi F. Hamdan & Marlène Rio & José-Mario Capo-Chichi & Nathalie Boddaert & Jean-Claude Décarie & Bruno Maranda & Rima Nabbout & Michel Sylvain & Anne Lortie & Philippe P. Roux & Elsa Rossignol & Xavier Gérard & Giulia Barcia &... is a book available to read on EtoBox.
- Author
- Isabelle Perrault & Fadi F. Hamdan & Marlène Rio & José-Mario Capo-Chichi & Nathalie Boddaert & Jean-Claude Décarie & Bruno Maranda & Rima Nabbout & Michel Sylvain & Anne Lortie & Philippe P. Roux & Elsa Rossignol & Xavier Gérard & Giulia Barcia &...
- Publisher
- The American Society of Human Genetics
- Language
- EN
More by Isabelle Perrault & Fadi F. Hamdan & Marlène Rio & José-Mario Capo-Chichi & Nathalie Boddaert & Jean-Claude Décarie & Bruno Maranda & Rima Nabbout & Michel Sylvain & Anne Lortie & Philippe P. Roux & Elsa Rossignol & Xavier Gérard & Giulia Barcia &...
Similar books
- Mutations in SLC13A5 Cause Autosomal-Recessive Epileptic Encephalopathy with Seizure Onset in the First Days of Life — Julien Thevenon & Mathieu Milh & François Feillet & Judith St-Onge & Yannis Duffourd & Clara Jugé & Agathe Roubertie & Delphine Héron & Cyril Mignot & Emmanuel Raffo & Bertrand Isidor & Sandra Wahlen & Damien Sanlaville & Nathalie Villeneuve &...
- Epileptic Encephalopathy Caused by Mutations in the Guanine Nucleotide Exchange Factor DENND5A — Chanshuai Han & Reem Alkhater & Tawfiq Froukh & Arakel G. Minassian & Melissa Galati & Rui Han Liu & Maryam Fotouhi & Julia Sommerfeld & Ayman J. Alfrook & Christian Marshall & Susan Walker & Peter Bauer & Stephen W. Scherer & Olaf Riess & Rebecca... (2016)
- Loss-of-Function Mutations in FRRS1L Lead to an Epileptic-Dyskinetic Encephalopathy — Marianna Madeo & Michelle Stewart & Yuyang Sun & Nadia Sahir & Sarah Wiethoff & Indra Chandrasekar & Anna Yarrow & Jill A. Rosenfeld & Yaping Yang & Dawn Cordeiro & Elizabeth M. McCormick & Colleen C. Muraresku & Tyler N. Jepperson & Lauren J. McBeth &...
- Loss-of-Function and Gain-of-Function Mutations in KCNQ5 Cause Intellectual Disability or Epileptic Encephalopathy — Anna Lehman & Samrat Thouta & Grazia M.S. Mancini & Sakkubai Naidu & Marjon van Slegtenhorst & Kirsty McWalter & Richard Person & Jill Mwenifumbo & Ramona Salvarinova & CAUSES Study & Shelin Adam & Christèle du Souich & Alison M. Elliott & Tanya N....
- Heterozygous RNF13 Gain-of-Function Variants Are Associated with Congenital Microcephaly, Epileptic Encephalopathy, Blindness, and Failure to Thrive — Simon Edvardson & Claudia M. Nicolae & Grace J. Noh & Jennifer E. Burton & Giuseppe Punzi & Avraham Shaag & Jessica Bischetsrieder & Anna De Grassi & Ciro Leonardo Pierri & Orly Elpeleg & George-Lucian Moldovan
- Mutations in WNT10B Are Identified in Individuals with Oligodontia — Ping Yu & Wenli Yang & Dong Han & Xi Wang & Sen Guo & Jinchen Li & Fang Li & Xiaoxia Zhang & Sing-Wai Wong & Baojing Bai & Yao Liu & Jie Du & Zhong Sheng Sun & Songtao Shi & Hailan Feng & Tao Cai