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European Journal of Medical Genetics|December 2, 2008
Severe cardiac phenotype of Berardinelli-Seip congenital lipodystrophy in an infant with homozygous E189X BSCL2 mutationB Friguls, W Coroleu, R del Alcazar, et al.The Journal of Clinical Investigation|January 15, 1997
Hereditary vitamin D resistant rickets caused by a novel mutation in the vitamin D receptor that results in decreased affinity for hormone and cellular hyporesponsivenessP J Malloy, T R Eccleshall, C Gross, et al.Journal of Medical Genetics|February 1, 1993
Brachymorphism-onychodysplasia-dysphalangism syndromeA Verloes, D Bonneau, O Guidi, et al.European Journal of Pediatrics|November 1, 1990
The Marshall-Smith syndromeA Charon, Y Gillerot, L Van Maldergem, et al.Genetic Counseling (Geneva, Switzerland)|January 1, 1992
Combined 10pter-->p11 and 18pter-->q11 trisomy in a 7-year-old childJ C Lapière, A Verloes, C Herens, et al.Virchows Archiv. A, Pathological Anatomy and Histopathology|January 1, 1991
Peroxisomal localization of the immunoreactive beta-oxidation enzymes in a neonate with a beta-oxidation defect. Pathological observations in liver, adrenal cortex and kidneyM Espeel, F Roels, L Van Maldergem, et al.Journal of Inherited Metabolic Disease|August 12, 2008
Congenital generalized lipodystrophy in an Indian patient with a novel mutation in BSCL2 geneH U Shirwalkar, Z M Patel, J Magre, et al.Human Genetics|October 1, 1991
X-linked recessive chondrodysplasia punctata with XY translocation in a stillborn fetusL Van Maldergem, M Espeel, F Roels, et al.American Journal of Medical Genetics|August 23, 1996
Syndrome of lipoatrophic diabetes, vitamin D resistant rickets, and persistent Müllerian ducts in a Turkish boy born to consanguineous parentsL Van Maldergem, A Bachy, D Feldman, et al.Journal of Medical Genetics|October 1, 1992
The gene for hereditary multiple exostoses does not map to the Langer-Giedion region (8q23-q24)M Le Merrer, K Ben Othmane, V Stanescu, et al.Pageof 10