Functional testing of thousands of osteoarthritis-associated variants for regulatory activity

por Jason C. Klein, Aidan Keith, Sarah J. Rice, Colin Shepherd, Vikram Agarwal, John Loughlin, Jay Shendure
Publicado 2019

Case Report: A Novel In-Frame Deletion of GLIS2 Leading to Nephronophthisis and Early Onset Kidney Failure

por Intisar Al Alawi, Intisar Al Alawi, Laura Powell, Sarah J. Rice, Mohammed S. Al Riyami, Marwa Al-Riyami, Issa Al Salmi, Issa Al Salmi, John A. Sayer, John A. Sayer, John A. Sayer
Publicado 2021