Diana L. Fitzpatrick

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Publications

Citations

1.3K

H-Index

Active since

2001

Affiliations

Health and Human Development (2HD) Research Network(Current)

National Institutes of Health

National Institute of Child Health

University of Minnesota

Diana L. Fitzpatrick is an author at Health and Human Development (2HD) Research Network specializing in life sciences, genetics, and genetic disorders.

Publications per year

2001–2012

Publications

Natural History of Alkaptonuria

Chanika Phornphutkul, Wendy J. Introne, Monique B. Perry et al. · New England Journal of Medicine · 2002 · 655 citations · Full text

Life Sciences, Genetics, Molecular Genetics +4

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 · 230 citations

Life Sciences, Genetics, Molecular Genetics +11

Nonsense Mutations in ADTB3A Cause Complete Deficiency of the β3A Subunit of Adaptor Complex-3 and Severe Hermansky-Pudlak Syndrome Type 2

Marjan Huizing, Charles D. Scher, Erin T. Strovel et al. · Pediatric Research · 2002 · 151 citations

Life Sciences, Genetics, Molecular Genetics +8

Hermansky-Pudlak Syndrome Type 3 in Ashkenazi Jews and Other Non–Puerto Rican Patients with Hypopigmentation and Platelet Storage-Pool Deficiency

Marjan Huizing, Yair Anikster, Diana L. Fitzpatrick et al. · The American Journal of Human Genetics · 2001 · 91 citations · Full text

Life Sciences, Genetics, Hematology +14

Evidence that Griscelli Syndrome with Neurological Involvement Is Caused by Mutations in RAB27A, Not MYO5A

Yair Anikster, Marjan Huizing, Paul Anderson et al. · The American Journal of Human Genetics · 2002 · 84 citations · Full text

Life Sciences, Genetics, Neurology +9

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