Mutations in SNX14 Cause a Distinctive Autosomal-Recessive Cerebellar Ataxia and Intellectual Disability Syndrome
Titel:
Mutations in SNX14 Cause a Distinctive Autosomal-Recessive Cerebellar Ataxia and Intellectual Disability Syndrome
Auteur:
Thomas, Anna C. Williams, Hywel Setó-Salvia, Núria Bacchelli, Chiara Jenkins, Dagan O’Sullivan, Mary Mengrelis, Konstantinos Ishida, Miho Ocaka, Louise Chanudet, Estelle James, Chela Lescai, Francesco Anderson, Glenn Morrogh, Deborah Ryten, Mina Duncan, Andrew J. Pai, Yun Jin Saraiva, Jorge M. Ramos, Fabiana Farren, Bernadette Saunders, Dawn Vernay, Bertrand Gissen, Paul Straatmaan-Iwanowska, Anna Baas, Frank Wood, Nicholas W. Hersheson, Joshua Houlden, Henry Hurst, Jane Scott, Richard Bitner-Glindzicz, Maria Moore, Gudrun E. Sousa, Sérgio B. Stanier, Philip