“Dystrophia Myotonica” and the legacy of hans gustav wilhelm steinert

by Shri Kant Mishra, Sandeep Singh, Brian Lee, Shaweta Khosa, Negar Moheb, Vishal A Tandon
Published 2018-01-01

Novel NUDT2 variant causes intellectual disability and polyneuropathy

by Frank Diaz, Shaweta Khosa, Dmitriy Niyazov, Hane Lee, Richard Person, Michelle M. Morrow, Rebecca Signer, Naghmeh Dorrani, Allison Zheng, Matthew Herzog, Robert Freundlich, Undiagnosed Diseases Network, J. Brandon Birath, Yurivia Cervantes‐Manzo, Julian A. Martinez‐Agosto, Christina Palmer, Stanley F. Nelson, Brent L. Fogel, Shri K. Mishra
Published 2020-11-01