Discover open access scientific publications

Search, annotate, share and cite publications

Publications by Nancy Elise Braverman

Rhizomelic Chondrodysplasia Punctata Type 1 Caused by a Novel Mutation in the PEX7 Gene

JCRPE Journal of Clinical Research in Pediatric Endocrinology

English

Related publications

Rhizomelic Chondrodysplasia Punctata

English

Mutational Spectrum in the PEX7 Gene and Functional Analysis of Mutant Alleles in 78 Patients With Rhizomelic Chondrodysplasia Punctata Type 1

American Journal of Human Genetics

English

The Neurology of Rhizomelic Chondrodysplasia Punctata

Orphanet Journal of Rare Diseases

English

Rhizomelic Chondrodysplasia Punctata: A Classic 'Spot' Diagnosis

BMJ Case Reports

English

118: Multiple Peroxisomal Enzyme Deficiencies in Rhizomelic Chondrodysplasia Punctata

Pediatric Research

English

Chondrodysplasia Punctata, Tibial-Metacarpal Type

English

Chondrodysplasia Punctata

Medical Journal Armed Forces India

English

Chondrodysplasia Punctata

English

Aberrant Subcellular Localization of Peroxisomal 3-Ketoacyl-CoA Thiolase in the Zellweger Syndrome and Rhizomelic Chondrodysplasia Punctata

Pediatric Research

English