Robert J. Gorlin

Multiple Nevoid Basal-Cell Epithelioma, Jaw Cysts and Bifid Rib

Robert J. Gorlin, Robert W. Goltz · New England Journal of Medicine · 1960 · 1K citations

Dental Cysts, Tumoral Pathology, Jaw Cysts +15

Mutations in the chemokine receptor gene CXCR4 are associated with WHIM syndrome, a combined immunodeficiency disease

Paolo A. Hernandez, Robert J. Gorlin, John N. Lukens et al. · Nature Genetics · 2003 · 701 citations

Primary Immunodeficiency, Whim Syndrome, Autoimmune Disease +9

PTEN Mutation Spectrum and Genotype-Phenotype Correlations in Bannayan-Riley-Ruvalcaba Syndrome Suggest a Single Entity With Cowden Syndrome

Deborah J. Marsh, Jennifer B. Kum, Kathryn L. Lunetta et al. · Human Molecular Genetics · 1999 · 605 citations

Genotype-phenotype Correlations, Mendelian Disorder, Malignant Disease +15

Syndromes of the Head and Neck.

Robert J. Gorlin, Michael Cohen, Stefan L. Levin · Plastic & Reconstructive Surgery · 1992 · 593 citations

Gross Anatomy, Otorhinolaryngology, Neck Pathology +10

Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans

Stephen P. Robertson, Stephen R.F. Twigg, Andrew J. Sutherland‐Smith et al. · Nature Genetics · 2003 · 426 citations · Full text

Developmental Biology, Mendelian Disorder, Genetic Disorder +8