Mahin Golabi

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 · 521 citations · Full text

Novel X-linked Disorder, Urology, Immune Deficiency +10

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

Knockout Mouse, Developmental Biology, Genetics +6

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

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

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 · 189 citations

Growth Hormone, Human Growth, Genetic Disorder +6