Concepedia

Marjan Huizing

MH

118

Publications

9.2K

Citations

51

H-Index

1994

Active since

Affiliations

National Human Genome Research Institute(Current)

National Institutes of Health

University of Minnesota

Office of the Director

National Eye Institute

Marjan Huizing is an author at National Human Genome Research Institute specializing in medicine, pathology, and genetics.

ORCID

Top concepts

Publications per year

1994–2021

118

Publications

118

An Autoinflammatory Disease with Deficiency of the Interleukin-1–Receptor Antagonist

Ivona Aksentijevich, Seth L. Masters, Polly J. Ferguson et al. · New England Journal of Medicine · 2009 · 977 citations · Full text

Natural History of Alkaptonuria

Chanika Phornphutkul, Wendy J. Introne, Monique B. Perry et al. · New England Journal of Medicine · 2002 · 644 citations · Full text

Retro-orbital injections in mice

Tal Yardeni, Michael Eckhaus, H Douglas Morris et al. · Lab Animal · 2011 · 522 citations

, , +3

NBEAL2 is mutated in gray platelet syndrome and is required for biogenesis of platelet α-granules

Meral Gunay‐Aygun, Tzipora C. Falik‐Zaccai, Thierry Vilboux et al. · Nature Genetics · 2011 · 255 citations · Full text

, , +8

Mutation of a new gene causes a unique form of Hermansky–Pudlak syndrome in a genetic isolate of central Puerto Rico

Yair Anikster, Marjan Huizing, James G. White et al. · Nature Genetics · 2001 · 227 citations

, , +9

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