Concepedia

Julie S. Fryburg

JS

16

Publications

1K

Citations

14

H-Index

1990

Active since

Affiliations

University of Virginia(Current)

Yale University

Julie S. Fryburg is an author at University of Virginia specializing in medicine, pathology, and genetics.

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Publications per year

1990–1998

16

Publications

16

Analysis of phenotypic features and FGFR2 mutations in Apert syndrome.

Woojin Park, Christiane Theda, Nancy E. Maestri et al. · PubMed · 1995 · 262 citations

Dystonia with motor delay in compound heterozygotes for GTP‐cyclohydrolase I gene mutations

Yoshiaki Furukawa, Stephen J. Kish, E. Martina Bebin et al. · Annals of Neurology · 1998 · 151 citations

Allelic loss on chromosome 11 in hereditary and sporadic tumors related to familial multiple endocrine neoplasia type 1.

A. Bale, J A Norton, Emily L. Wong et al. · PubMed · 1991 · 114 citations

, , +18

Follow‐up of pregnancies complicated by placental mosaicism diagnosed by chorionic villus sampling

Julie S. Fryburg, Miriam S. DiMaio, Teresa L. Yang‐Feng et al. · Prenatal Diagnosis · 1993 · 104 citations

, , +23

Oral phenylalanine loading in dopa‐responsive dystonia

Julie S. Fryburg, W. G. Wilson, E. Martina Bebin et al. · Neurology · 1997 · 90 citations

, , +10

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