Concepedia

Mahin Golabi

MG

Statistics

Publications

44

Citations

3.4K

H-Index

30

Active since

1977

Affiliations

University of California, San Francisco(Current)

University of Kentucky

Children's Hospital Central California

University of California, Davis

University of California San Francisco Medical Center

Mahin Golabi is an author at University of California, San Francisco specializing in human genetics, medicine, and genetics.

ORCID

Publications per year

1977–2013

44

Publications

44

A Novel X-Linked Disorder of Immune Deficiency and Hypohidrotic Ectodermal Dysplasia Is Allelic to Incontinentia Pigmenti and Due to Mutations in IKK-gamma (NEMO)

Jonathan Zonana, Melissa E. Elder, Lynda C. Schneider et al. · The American Journal of Human Genetics · 2000 · 523 citations · Full text

, , +15

Mutations in PATCHED-1, the receptor for SONIC HEDGEHOG, are associated with holoprosencephaly

Jeffrey E. Ming, Michelle E. Kaupas, Erich Roessler et al. · Human Genetics · 2002 · 243 citations

, , +10

Smith‐Lemli‐Opitz syndrome‐type II: Multiple congenital anomalies with male pseudohermaphroditism and frequent early lethality

Cynthia J. Curry, John C. Carey, Julie Holland et al. · American Journal of Medical Genetics · 1987 · 230 citations

, , +16

The genetic basis of DOORS syndrome: an exome-sequencing study

Philippe M. Campeau, Dalia Kasperavičiūtė, James T. Lu et al. · The Lancet Neurology · 2013 · 227 citations · Full text

, , +17

Fibroblast growth factor receptor 2 mutations in Beare–Stevenson cutis gyrata syndrome

Kelly A. Przylepa, William A. Paznekas, Minghuang Zhang et al. · Nature Genetics · 1996 · 190 citations

, , +11

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