Marjan Huizing - Concepedia

Author

Marjan Huizing

National Human Genome Research Institute ORCID

Also Known As

A. Shaag, D Douek, James C. Mullikin, M Huizing, M. HUIZING, M. Huizing, Marije Huizing, Marjan Huizing, NISC Comparative Sequencing Program, William A. Gahl

240

Publications

11.6K

Citations

H-Index

144

Concepts

All Affiliations

National Human Genome Research Institute National Institutes of Health University of Minnesota Office of the Director National Eye Institute

About

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

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	37	65	4.6K
2	Public Health	4	4	183
3	Engineering	2	2	126
4	Health Sciences	2	2	23
5	Natural Sciences	2	2	57

Marjan Huizing

118

Publications

9.2K

Citations

H-Index

Page 1

	Year	Citations
An Autoinflammatory Disease with Deficiency of the Interleukin-1–Receptor Antagonist Ivona Aksentijevich, Seth L. Masters, Polly J. Ferguson, New England Journal of Medicine	2009	977
Natural History of Alkaptonuria Chanika Phornphutkul, Wendy J. Introne, Monique B. Perry, New England Journal of Medicine	2002	644
Retro-orbital injections in mice Tal Yardeni, Michael Eckhaus, H Douglas Morris, Lab Animal Knockout MouseMolecular NeuroscienceMedicineNeuropharmacologyPharmacology	2011	522
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, Nature Genetics Blood PlateletGeneticsPathogenesisHematologyBlood Cell	2011	255
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, Nature Genetics Mendelian DisorderGenetic DisorderGeneticsPathogenesisNew Gene	2001	227
<i>Slc7a11</i> gene controls production of pheomelanin pigment and proliferation of cultured cells Sreenivasulu Chintala, Wei Li, M. Lynn Lamoreux, Proceedings of the National Academy of Sciences	2005	215
Mutation in the key enzyme of sialic acid biosynthesis causes severe glomerular proteinuria and is rescued by N-acetylmannosamine Belinda Galeano, Riko Klootwijk, Irini Manoli, Journal of Clinical Investigation	2007	197
Pulmonary Function and High-Resolution CT Findings in Patients With an Inherited Form of Pulmonary Fibrosis, Hermansky-Pudlak Syndrome, Due to Mutations in HPS-1 Mark Brantly, Nilo A. Avila, Vorasuk Shotelersuk, CHEST Journal Mendelian DisorderHigh-resolution Ct FindingsGenetic DisorderPulmonary FunctionHermansky-pudlak Syndrome	2000	174
Characteristics of Congenital Hepatic Fibrosis in a Large Cohort of Patients With Autosomal Recessive Polycystic Kidney Disease Meral Gunay‐Aygun, Esperanza Font–Montgomery, Linda Lukose, Gastroenterology FibrosisHepatologyMedicinePediatricsPathology	2012	173
Gray platelet syndrome: natural history of a large patient cohort and locus assignment to chromosome 3p Meral Gunay‐Aygun, Yifat Zivony-Elboum, Fatma Gümrük, Blood	2010	153

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