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B Steinmann

Showing results (101-110 of 238) with videos related to

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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.
The New England Journal of Medicine|March 29, 1984
Prenatal diagnosis of hereditary tyrosinemiaB Steinmann, R Gitzelmann, E A Kvittingen, 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.
The Journal of Investigative Dermatology|January 1, 1994
Intracellular accumulation of collagen VII in cultured keratinocytes from a patient with dominant dystrophic epidermolysis bullosaA König, M Raghunath, 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.
American Journal of Medical Genetics|August 15, 1993
Long-term follow-up of two sibs with Larsen syndrome possibly due to parental germ-line mosaicismR Petrella, J G Rabinowitz, B Steinmann, et al.
Zeitschrift Fur Urologie Und Nephrologie|April 1, 1975
[Occult testicular carcinomas]S Geroulanos, A Sulmoni, K H Kurth, 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.
Helvetica Paediatrica Acta|December 1, 1978
Hereditary fructose intolerance in early childhood: a major diagnostic challenge. Survey of 20 symptomatic casesK Baerlocher, R Gitzelmann, B Steinmann, et al.
Pageof 24

Showing results (101-110 of 238) with videos related to

Sort By:
Pageof 24
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.
The New England Journal of Medicine|March 29, 1984
Prenatal diagnosis of hereditary tyrosinemiaB Steinmann, R Gitzelmann, E A Kvittingen, 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.
The Journal of Investigative Dermatology|January 1, 1994
Intracellular accumulation of collagen VII in cultured keratinocytes from a patient with dominant dystrophic epidermolysis bullosaA König, M Raghunath, 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.
American Journal of Medical Genetics|August 15, 1993
Long-term follow-up of two sibs with Larsen syndrome possibly due to parental germ-line mosaicismR Petrella, J G Rabinowitz, B Steinmann, et al.
Zeitschrift Fur Urologie Und Nephrologie|April 1, 1975
[Occult testicular carcinomas]S Geroulanos, A Sulmoni, K H Kurth, 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.
Helvetica Paediatrica Acta|December 1, 1978
Hereditary fructose intolerance in early childhood: a major diagnostic challenge. Survey of 20 symptomatic casesK Baerlocher, R Gitzelmann, B Steinmann, et al.
Pageof 24