Identification of a novel pathogenic OTOF variant causative of nonsyndromic hearing loss with high frequency in the Ashkenazi Jewish population

por Fedick, Anastasia M, Jalas, Chaim, Swaroop, Ananya, Smouha, Eric E, Webb, Bryn D
Publicado 2016

Carrier frequencies of eleven mutations in eight genes associated with primary ciliary dyskinesia in the Ashkenazi Jewish population

por Fedick, Anastasia M, Jalas, Chaim, Treff, Nathan R, Knowles, Michael R, Zariwala, Maimoona A
Publicado 2015