Further Validation of the c.151+1G>T Mutation as Cause of Distal Hereditary Motor Neuropathy

by Jessica J. Y. Lee BSc, Clara D. M. van Karnebeek MD, PhD, Britt Drögemoller PhD, Casper Shyr PhD, Maja Tarailo-Graovac PhD, Patrice Eydoux PhD, Colin J. Ross PhD, Wyeth W. Wasserman PhD, Bruce Björnson MD, John K. Wu MD
Published 2016-09-01

Adult GAMT deficiency: A literature review and report of two siblings

by Bhavi P. Modi, Haq Nawaz Khan, Robin van der Lee, Muhammad Wasim, Charlotte A. Haaxma, Phillip A. Richmond, Britt Drögemöller, Suleman Shah, Gajja Salomons, Frans M. van der Kloet, Fred M. Vaz, Saskia N. van der Crabben, Colin J. Ross, Wyeth W. Wasserman, Clara D.M. van Karnebeek, Fazli Rabbi Awan
Published 2021-06-01