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MB

Maureen Bocian

Medical Genetics / Clinical Genetics (M.D.)

Credentials: · ·

History

Research

Mutations in the transmembrane domain of FGFR3 cause the most common genetic form of dwarfism, achondroplasia
Cell · 1994 · 1,047 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
Head circumference and height in autism: a study by the Collaborative Program of Excellence in Autism
American Journal of Medical Genetics Part A · 2006 · 271 citations

DR
David Rimoin
4 papers
Pauline Filipek
4 papers
Ralph Lachman
4 papers
Nathaniel Robin
3 papers
Pamela Flodman
3 papers
Cynthia Curry
2 papers
Joann Bodurtha
2 papers
John Carey
2 papers
JG
John Graham
2 papers
JG
John Jay Gargus
2 papers
Marilyn Jones
2 papers
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William Horton
2 papers