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American Journal of Medical Genetics|April 15, 1993
Heterogeneity versus variability in megalocornea-mental retardation (MMR) syndromes: report of new cases and delineation of 4 probable typesA Verloes, H Journel, C Elmer, et al.Genetic Counseling (Geneva, Switzerland)|January 23, 1999
Progressive pseudorheumatoid dysplasia: report of a patient with symptoms present at birthG van Buggenhout, L De Smet, P Maroteaux, et al.Connective Tissue Research|January 1, 1983
Hydrothermal isometric tension curves from different connective tissues. Role of collagen genetic types and noncollagenous componentsM Le Lous, J C Allain, L Cohen-Solal, et al.American Journal of Medical Genetics|May 15, 1994
Non-collagenous protein screening in the human chondrodysplasias: link proteins, cartilage oligomeric matrix protein (COMP), and fibromodulinV Stanescu, T P Do, F Chaminade, et al.American Journal of Medical Genetics|July 1, 1993
No evidence for linkage to the type 1 or type 2 neurofibromatosis loci in Noonan syndrome familiesW F Flintoff, M Bahuau, S Lyonnet, et al.Clinical Dysmorphology|January 11, 2001
Hypertelorism-Microtia-Clefting syndrome (Bixler syndrome): report of two unrelated casesJ Amiel, L Faivre, R Marianowskl, et al.Human Genetics|January 26, 2002
Phenotypic variability at the TGF-beta1 locus in Camurati-Engelmann diseaseB Campos-Xavier, J M Saraiva, R Savarirayan, et al.Acta Paediatrica (Oslo, Norway : 1992). Supplement|January 8, 2000
SHOX gene mutations and deletions in dyschondrosteosis or Leri-Weill syndromeV Cormier-Daire, V Belin, V Cusin, et al.European Journal of Pediatrics|August 1, 1996
Abnormal cholesterol biosynthesis in the Smith-Lemli-Opitz and the lethal acrodysgenital syndromesV Cormier-Daire, C Wolf, A Munnich, et al.American Journal of Medical Genetics. Part A|July 22, 2004
Atypical findings in Kabuki syndrome: report of 8 patients in a series of 20 and review of the literatureD Geneviève, J Amiel, G Viot, et al.Pageof 29