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Staff
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. … Marjan Huizing, rare diseases, genetic disorders, metabolic …
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 …
Staff
Dr. William A. Gahl is the Clinical Director for the National Human Genome Research Institute 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 …
Staff
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 …
Clinical Research
This study evaluates patients with inherited metabolic disorders and related medical complications.
… J.R., O'Brien K., Hauser N.S., Sapp J.C., Dorward H.M., Huizing M., NISC, Barshop B.A., Berry S.A., James P.M., …
Staff
Dr. Raman Sood is the director of the Zebrafish Core at the National Human Genome Research Institute. ​
… T, Puchalka J, Sood R, Carrington B, Bishop K, Mullikin J, Huizing M, Garty BZ, Eyal E, Wolach B, Gavrieli R, Toren A, …
Staff
Dr. Charles Venditti is a senior investigator in NHGRI's Center for Precision Health Research.
… SD, Sysol JR, O'Brien K, Hauser NS, Sapp JC, Dorward HM, Huizing M, NISC, Barshop BA, Berry SA, James PM, Champaigne …
Staff
Dr. Goldbach-Mansky is an adjunct investigator in NHGRI's Medical Genetics Branch
… B, Korman BD, Gregersen PK, M.D., van Hagen PM, Hak AE, Huizing M, Rahman P, Douek DC, Ph.D., Remmers EF, Kastner DL, …
Staff
Dr. Mullikin is director of the NIH Intramural Sequencing Center (NISC).
… AS, Kehrel BE, Jurk K, Cruz P, Mullikin JC, White JG, Huizing M, Gahl WA. NBEAL2 is mutated in gray platelet … T, Puchalka J, Sood R, Carrington B, Bishop K, Mullikin J, Huizing M, Garty BZ, Eyal E, Wolach B, Gavrieli R, Toren A, …
Staff
Dr. Dan Kastner is an NIH Distinguished Investigator in Metabolic, Cardiovascular and Inflammatory Disease Genomics Branch.
… M, Yang B, Korman BD, Gregersen PK, van Hagen M, Hak AE, Huizing M, Rahman P, Douek DC, Remmers EF, Kastner DL, …