Concepedia

Audrey Heimler

AH

11

Publications

472

Citations

10

H-Index

1972

Active since

Affiliations

Long Island Jewish Medical Center(Current)

Schneider Children's Hospital

Audrey Heimler is an author at Long Island Jewish Medical Center specializing in medicine, family medicine, and genetic counseling.

Top concepts

Publications per year

1972–2015

11

Publications

11

Heimler Syndrome Is Caused by Hypomorphic Mutations in the Peroxisome-Biogenesis Genes PEX1 and PEX6

Ilham Ratbi, Kim D. Falkenberg, Manou Sommen et al. · The American Journal of Human Genetics · 2015 · 122 citations · Full text

Branchio‐oto‐renal syndrome: Reduced penetrance and variable expressivity in four generations of a large kindred

Audrey Heimler, Ernest Lieber, John M. Opitz et al. · American Journal of Medical Genetics · 1986 · 120 citations

Sensorineural hearing loss, enamel hypoplasia, and nail abnormalities in sibs

Audrey Heimler, Joyce E. Fox, Joel E. Hershey et al. · American Journal of Medical Genetics · 1991 · 50 citations

, , +11

An Oral History of the National Society of Genetic Counselors

Audrey Heimler · Journal of Genetic Counseling · 1997 · 48 citations

, , +15

Naevoid basal cell carcinoma syndrome and Charcot-Marie-Tooth disease: two autosomal dominant disorders segregating in a family.

Audrey Heimler, Eugene Friedman, A Rosenthal · Journal of Medical Genetics · 1978 · 26 citations · Full text

, , +6

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