✦ LIBER ✦

Whole-Exome Sequencing Identifies LRIT3 Mutations as a Cause of Autosomal-Recessive Complete Congenital Stationary Night Blindness

✍ Scribed by Zeitz, Christina; Jacobson, Samuel G.; Hamel, Christian P.; Bujakowska, Kinga; Neuillé, Marion; Orhan, Elise; Zanlonghi, Xavier; Lancelot, Marie-Elise; Michiels, Christelle; Schwartz, Sharon B.; Bocquet, Béatrice; Antonio, Aline; Audier, Claire; Letexier, Mélanie; Saraiva, Jean-Paul; Luu, Tien D.; Sennlaub, Florian; Nguyen, Hoan; Poch, Olivier; Dollfus, Hélène; Lecompte, Odile; Kohl, Susanne; Sahel, José-Alain; Bhattacharya, Shomi S.; Audo, Isabelle

Book ID: 123303410
Publisher: American Society of Human Genetics
Year: 2013
Tongue: English
Weight: 738 KB
Volume: 92
Category: Article
ISSN: 0002-9297
DOI: 10.1016/j.ajhg.2012.10.023

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Whole-Exome Sequencing Identifies Mutati

Whole-Exome Sequencing Identifies Mutations in GPR179 Leading to Autosomal-Recessive Complete Congenital Stationary Night Blindness

✍ Isabelle Audo; Kinga Bujakowska; Elise Orhan; Charlotte M. Poloschek; Sabine Def 📂 Article 📅 2012 🏛 American Society of Human Genetics 🌐 English ⚖ 828 KB

Whole-Exome Sequencing Identifies Mutati

Whole-Exome Sequencing Identifies Mutations in GPR179 Leading to Autosomal-Recessive Complete Congenital Stationary Night Blindness

✍ Isabelle Audo; Kinga Bujakowska; Elise Orhan; Charlotte M. Poloschek; Sabine Def 📂 Article 📅 2012 🏛 American Society of Human Genetics 🌐 English ⚖ 37 KB

Exome sequencing identifies mutations in

Exome sequencing identifies mutations in KIF14 as a novel cause of an autosomal recessive lethal fetal ciliopathy phenotype

✍ Filges, I.; Nosova, E.; Bruder, E.; Tercanli, S.; Townsend, K.; Gibson, W.T.; Rö 📂 Article 📅 2013 🏛 John Wiley and Sons 🌐 English ⚖ 736 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