Concepedia
Statistics
Publications
12
Citations
911
H-Index
Active since
1995
Affiliations
National Institutes of Health(Current)
National Institute of Arthritis and Musculoskeletal and Skin Diseases
Thomas Jefferson University
Istituto Dermopatico dell'Immacolata
Southern General Hospital
Gabriela Richard is an author at National Institutes of Health specializing in human genetics, genetics, and life sciences.
Publications per year
1995–2005
Functional defects of Cx26 resulting from a heterozygous missense mutation in a family with dominant deaf-mutism and palmoplantar keratoderma
Gabriela Richard, Thomas W. White, Lisa E. Smith et al. · Human Genetics · 1998 · 278 citations
Medicine, Genetics, Molecular Genetics +14
trans-dominant inhibition of connexin-43 by mutant connexin-26: implications for dominant connexin disorders affecting epidermal differentiation
Fatima Rouan, Thomas W. White, Nkecha Brown et al. · Journal of Cell Science · 2001 · 177 citations
Life Sciences, Cell Biology, Genetics +16
Keratin 13 point mutation underlies the hereditary mucosal epithelia disorder white sponge nevus
Gabriela Richard, Vincenzo De Laurenzi, Biagio Didona et al. · Nature Genetics · 1995 · 124 citations
Life Sciences, Dermatology, Genetics +8
Connexin mutations associated with palmoplantar keratoderma and profound deafness in a single family
David P. Kelsell, Amanda L Wilgoss, Gabriela Richard et al. · European Journal of Human Genetics · 2000 · 75 citations · Full text
Medicine, Dermatology, Genetics +17
Linkage Studies in Erythrokeratodermias: Fine Mapping, Genetic Heterogeneity, and Analysis of Candidate Genes
Gabriela Richard, Jing‐Ping Lin, Lisa V. Smith et al. · Journal of Investigative Dermatology · 1997 · 69 citations · Full text
Life Sciences, Genetics, Molecular Genetics +17
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