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The Journal of Pediatrics|September 1, 1996
Prevalence of hypopigmented macules in a healthy populationS L Vanderhooft, J S Francis, R A Pagon, et al.Proceedings. AMIA Symposium|February 3, 1999
Creation and maintenance of Helix, a Web based database of medical genetics laboratories, to serve the needs of the genetics communityP Tarczy-Hornoch, M L Covington, J Edwards, et al.The Cleft Palate-Craniofacial Journal : Official Publication of the American Cleft Palate-Craniofacial Association|January 1, 1991
Nasal dermoid sinus cysts: association with intracranial extension and multiple malformationsT D Wardinsky, R A Pagon, R J Kropp, et al.American Journal of Medical Genetics|May 8, 2000
Two novel fibrillin-2 mutations in congenital contractural arachnodactylyS Belleh, G Zhou, M Wang, et al.American Journal of Medical Genetics|June 1, 1987
Partial androgen resistance due to a distinctive qualitative defect of the androgen receptorL Pinsky, M Kaufman, L L LevitskyNeurology|July 1, 1992
Causal heterogeneity in isolated lissencephalyW B Dobyns, E R Elias, A C Newlin, et al.Human Genetics|January 1, 1992
Preferential mutation of the neurofibromatosis type 1 gene in paternally derived chromosomesK Stephens, L Kayes, V M Riccardi, et al.Journal of Steroid Biochemistry|September 1, 1986
Ligand-specific thermal misbehavior of synthetic androgen-receptor complexes in genital skin fibroblasts of subjects with familial ligand-sensitive androgen resistanceM Kaufman, L Pinsky, D W KillingerThe Biochemical Journal|March 1, 1973
The disorder of hyaluronic acid metabolism in cultured skin fibroblasts derived from a patient with the Hurler syndromeR J Germinario, A Kahlenberg, L PinskyThe Journal of Clinical Investigation|April 1, 1985
Reduced affinity of the androgen receptor for 5 alpha-dihydrotestosterone but not methyltrienolone in a form of partial androgen resistance. Studies on cultured genital skin fibroblastsL Pinsky, M Kaufman, A E ChudleyPageof 37