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A Superti-Furga

Showing results (21-30 of 136) with videos related to

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Annals of the New York Academy of Sciences|January 1, 1988
Imperfect collagenesis in osteogenesis imperfecta. The consequences of cysteine-glycine substitutions upon collagen structure and metabolismB Steinmann, A Superti-Furga, P M Royce
International Journal of Microcirculation, Clinical and Experimental|August 1, 1992
Microangiopathy in Ehlers-Danlos syndrome type IVA Superti-Furga, B Saesseli, B Steinmann, et al.
European Journal of Pediatrics|November 1, 1996
Microcephaly and maternal phenylketonuriaA Superti-Furga, B Steinmann, G Duc, 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.
Praxis|March 21, 2002
[Early-onset generalized polyarthritis (Stickler syndrome)]J Mach, D Sobetzko, A Superti-Furga, 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|February 24, 2001
Achondroplasia with the FGFR3 1138g-->a (G380R) mutation in two sibs sharing a 4p haplotype derived from their unaffected fatherD Sobetzko, S Braga, A Rüdeberg, 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.
Pageof 14

Showing results (21-30 of 136) with videos related to

Sort By:
Pageof 14
Annals of the New York Academy of Sciences|January 1, 1988
Imperfect collagenesis in osteogenesis imperfecta. The consequences of cysteine-glycine substitutions upon collagen structure and metabolismB Steinmann, A Superti-Furga, P M Royce
International Journal of Microcirculation, Clinical and Experimental|August 1, 1992
Microangiopathy in Ehlers-Danlos syndrome type IVA Superti-Furga, B Saesseli, B Steinmann, et al.
European Journal of Pediatrics|November 1, 1996
Microcephaly and maternal phenylketonuriaA Superti-Furga, B Steinmann, G Duc, 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.
Praxis|March 21, 2002
[Early-onset generalized polyarthritis (Stickler syndrome)]J Mach, D Sobetzko, A Superti-Furga, 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|February 24, 2001
Achondroplasia with the FGFR3 1138g-->a (G380R) mutation in two sibs sharing a 4p haplotype derived from their unaffected fatherD Sobetzko, S Braga, A Rüdeberg, 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.
Pageof 14