Marjan Huizing

Publication Activity (10 Years)

Years Active: 2020-2023
Publications (10 Years): 3

Top Topics

Intellectual Disability

Pseudomonas Aeruginosa

Top Venues

Journal of medical genetics

National Institutes of Health

Radboud University Nijmegen (PHD)

This page only lists publications with an associated author ORCID identifier.

Affiliation History

National Institutes of Health

United States

Staff Scientist :: NHGRI

Education History

Radboud University Nijmegen

Netherlands

PHD :: Pediatrics and Neurlogy

Wageningen University

Netherlands

MSC

Publications

Marie Morimoto, Elena-Raluca Nicoli, Chulaluck Kuptanon, Joseph C Roney, Jenny Serra-Vinardell, Prashant Sharma, David R Adams, John I Gallin, Steven M Holland, Sergio D Rosenzweig, Jose Barbot, Carla Ciccone, Marjan Huizing, Camilo Toro, William A Gahl, Wendy J Introne, May Christine V Malicdan
Spectrum of LYST mutations in Chediak-Higashi syndrome: a report of novel variants and a comprehensive review of the literature. Journal of medical genetics (2023)
Scott Van Wart, Donald E Mager, Cindy J Bednasz, Marjan Huizing, Nuria Carrillo-Carrasco
Population Pharmacokinetic Model of N-acetylmannosamine (ManNAc) and N-acetylneuraminic acid (Neu5Ac) in Subjects with GNE Myopathy. Drugs in R&D 21 (2) (2021)
Marjan Huizing, May C V Malicdan, Jennifer A Wang, Hadass Pri-Chen, Richard A Hess, Roxanne Fischer, Kevin J O'Brien, Melissa A Merideth, William A Gahl, Bernadette R Gochuico
Hermansky-Pudlak syndrome: Mutation update. Human mutation 41 (3) (2020)