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Dr. Marjan Huizing is a staff scientist in the Medical Genetics Branch at the National Human Genome Research Institute. ​
… Dr. Huizing investigates rare human genetic disorders and … 155-170. … Biography … Publications … Related Projects … Marjan Huizing, Ph.D. … Dr. Marjan Huizing is a staff scientist in the Medical Genetics …
Clinical Research
The study collects genetic and medical information from people with GNE myopathy to understand the symptoms and clinical course of GNE myopathy.
… May 2020: GNEM Symposium Speakers Series Presenter: Marjan Huizing, Ph.D., NHGRI, NIH. Disorders of Sialic Acid … 2016: SBP Rare Disease Day Symposium 2016 Presenter: Marjan Huizing, Ph.D., NHGRI, NIH. Advancing ManNAs as a …
Dr. William A. Gahl is a senior investigator in the Medical Genetics Branch and the director of the NIH Undiagnosed Diseases Program.
… syndrome) . N Engl J Med , 338:1258-64. 1998. Anikster Y, Huizing M, White J, Bale S, Gahl WA, Toro J. Mutation of a … MB, Bernardini I, Murphey MD, Fitzpatrick DL, Anderson PD, Huizing M, Anikster Y, Gerber LH, Gahl WA. Natural history of … A, Kehrel BE, Jurk K, Cruz P, Mullikin JC, White JG, Huizing M, Gahl WA. NBEAL2 is mutated in Gray Platelet …
Dr. David Adams is a senior clinician in the Office of the Clinical Director, NHGRI, and co-director of the Undiagnosed Diseases Program at NIH. He serves as deputy director of clinical genomics in both.
… doi: 10.1002/humu.24257. Epub 2021 Aug 1.  Huizing M, Hackbarth ME, Adams DR, Wasserstein M, Patterson …
Dr. Brian Brooks is an adjunct investigator in NHGRI's Center for Precision Health Research.
… Chan CC, Kjellstron S, Smith RS, Crawford MA, Lamoreux L, Huizing M, Hess R, Jiao X, Hejtmancik FJ, Maminishkis A, John …