Two Novel Mutations Identified in an African-American Child with Chediak-Higashi Syndrome

by Kerry Morrone, Yanhua Wang, Marjan Huizing, Elie Sutton, James G. White, William A. Gahl, Karen Moody
Published 2010-01-01

Two novel compound heterozygous mutations in OPA3 in two siblings with OPA3-related 3-methylglutaconic aciduria

by Christina Lam, Linda K. Gallo, Richard Dineen, Carla Ciccone, Heidi Dorward, George E. Hoganson, Lynne Wolfe, William A. Gahl, Marjan Huizing
Published 2014-01-01

Molecular analysis of the Retinoic Acid Induced 1 gene (RAI1) in patients with suspected Smith-Magenis syndrome without the 17p11.2 deletion.

by Thierry Vilboux, Carla Ciccone, Jan K Blancato, Gerald F Cox, Charu Deshpande, Wendy J Introne, William A Gahl, Ann C M Smith, Marjan Huizing
Published 2011-01-01

Rationale and Design for a Phase 1 Study of N-Acetylmannosamine for Primary Glomerular Diseases

by Marjan Huizing, Tal Yardeni, Federico Fuentes, May C.V. Malicdan, Petcharat Leoyklang, Alexander Volkov, Benjamin Dekel, Emily Brede, Jodi Blake, Alva Powell, Harish Chatrathi, Yair Anikster, Nuria Carrillo, William A. Gahl, Jeffrey B. Kopp
Published 2019-10-01

Hermansky-Pudlak syndrome and oculocutaneous albinism in Chinese children with pigmentation defects and easy bruising

by Bradley Power, Carlos R. Ferreira, Dong Chen, Wadih M. Zein, Kevin J. O’Brien, Wendy J. Introne, Joshi Stephen, William A. Gahl, Marjan Huizing, May Christine V. Malicdan, David R. Adams, Bernadette R. Gochuico
Published 2019-02-01