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Nathaniel Robin

Medical and Residency Director, UAB Genetics · University of Alabama Hospital

Credentials: · · ·

History

Medical and, UAB Genetics Residency · University of Alabama Hospital
Present
University of Alabama Hospital
Present
University of Alabama Hospital
Present

Medical Genetics and Genomics
1989–1991
Albert Einstein College of Medicine
1985–1989

Research

A common mutation in the fibroblast growth factor receptor 1 gene in Pfeiffer syndrome
Nature Genetics · 1994 · 506 citations
A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) defines a new craniosynostosis syndrome
The American Journal of Human Genetics · 1997 · 312 citations
The mutational spectrum of the sonic hedgehog gene in holoprosencephaly: SHH mutations cause a significant proportion of autosomal dominant holoprosencephaly
Human Molecular Genetics · 1999 · 285 citations

Elaine Zackai
16 papers
Fady Mikhail
14 papers
John Grant
10 papers
MM
Max Muenke
10 papers
Donna McDonald-McGinn
8 papers
Richard Smith
8 papers
Edward Lose
6 papers
Bruce Korf
5 papers
AS
Achara Sathienkijkanchai
4 papers · 4 as a resident
Anna Hurst
4 papers
AH
Austin Hamm
4 papers · 2 as a fellow
Catherine Gooch
4 papers · 2 as a resident

Grants

Genetic Testing/Hearing Impairment in African Americans
National Institute on Deafness and Other Communication Disorders · R03
Contact PI · $145K · University of Alabama at Birmingham
2003–2006