학술논문
Rare De Novo Missense Variants in RNA Helicase DDX6 Cause Intellectual Disability and Dysmorphic Features and Lead to P-Body Defects and RNA Dysregulation
Document Type
Article
Author
Balak, Chris; Benard, Marianne; Schaefer, Elise; Iqbal, Sumaiya; Ramsey, Keri; Ernoult-Lange, Michèle; Mattioli, Francesca; Llaci, Lorida; Geoffroy, Véronique; Courel, Maité; Naymik, Marcus; Bachman, Kristine K.; Pfundt, Rolph; Rump, Patrick; ter Beest, Johanna; Wentzensen, Ingrid M.; Monaghan, Kristin G.; McWalter, Kirsty; Richholt, Ryan; Le Béchec, Antony; Jepsen, Wayne; De Both, Matt; Belnap, Newell; Boland, Anne; Piras, Ignazio S.; Deleuze, Jean-François; Szelinger, Szabolcs; Dollfus, Hélène; Chelly, Jamel; Muller, Jean; Campbell, Arthur; Lal, Dennis; Rangasamy, Sampathkumar; Mandel, Jean-Louis; Narayanan, Vinodh; Huentelman, Matt; Weil, Dominique; Piton, Amélie
Source
In The American Journal of Human Genetics 5 September 2019 105(3):509-525
Subject
Language
ISSN
0002-9297