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American Journal of Medical Genetics|March 14, 2002
Molecular-pathogenetic classification of genetic disorders of the skeletonA Superti-Furga, L Bonafé, D L RimoinJournal of Medical Genetics|December 1, 1992
Deficiencies of fibrillin and decorin in fibroblast cultures of a patient with neonatal Marfan syndromeA Superti-Furga, M Raghunath, P J WillemsInternational Journal of Microcirculation, Clinical and Experimental|August 1, 1992
Microangiopathy in Ehlers-Danlos syndrome type IVA Superti-Furga, B Saesseli, B Steinmann, et al.American Journal of Medical Genetics|May 3, 1996
A chondrodysplasia family produced by mutations in the diastrophic dysplasia sulfate transporter gene: genotype/phenotype correlationsA Superti-Furga, A Rossi, B Steinmann, et al.European Journal of Pediatrics|May 1, 1991
Maternal phenylketonuria syndrome in cousins caused by mild, unrecognized phenylketonuria in their mothers homozygous for the phenylalanine hydroxylase Arg-261-Gln mutationA Superti-Furga, B Steinmann, G Duc, et al.The Journal of Biological Chemistry|May 5, 1988
Ehlers-Danlos syndrome type IV: a multi-exon deletion in one of the two COL3A1 alleles affecting structure, stability, and processing of type III procollagenA Superti-Furga, E Gugler, R Gitzelmann, et al.Journal of Medical Genetics|June 1, 1989
Clinical variability of osteogenesis imperfecta linked to COL1A2 and associated with a structural defect in the type I collagen moleculeA Superti-Furga, F Pistone, C Romano, et al.Human Genetics|January 1, 1993
Decreased extracellular deposition of fibrillin and decorin in neonatal Marfan syndrome fibroblastsM Raghunath, A Superti-Furga, M Godfrey, et al.The New England Journal of Medicine|March 9, 2000
Clinical and genetic features of Ehlers-Danlos syndrome type IV, the vascular typeM Pepin, U Schwarze, A Superti-Furga, et al.Human Genetics|May 1, 1989
Molecular defects of type III procollagen in Ehlers-Danlos syndrome type IVA Superti-Furga, B Steinmann, F Ramirez, et al.Pageof 19