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B Steinmann

Showing results (191-200 of 238) with videos related to

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Helvetica Paediatrica Acta|February 1, 1978
Nonketotic hyperglycinemia treated with strychnine, a glycine receptor antagonistR Gitzelmann, B Steinmann, A Otten, et al.
Journal of Inherited Metabolic Disease|July 1, 1997
Short-chain acyl-CoA dehydrogenase deficiency in a 16-year-old girl with severe muscle wasting and scoliosisK E Baerlocher, B Steinmann, A Aguzzi, et al.
The Journal of Biological Chemistry|September 25, 1980
Evidence for a structural mutation of procollagen type I in a patient with the Ehlers-Danlos syndrome type VIIB Steinmann, L Tuderman, L Peltonen, et al.
European Journal of Pediatrics|August 1, 1988
Lethal osteogenesis imperfecta: abnormal collagen metabolism and biochemical characteristics of hypophosphatasiaP M Royce, A Blumberg, R P Zurbrügg, et al.
Journal of Medical Genetics|May 20, 2000
Clinical variability of Stickler syndrome with a COL2A1 haploinsufficiency mutation: implications for genetic counsellingJ Faber, A Winterpacht, B Zabel, et al.
Journal of Medical Genetics|August 1, 1996
The deletion of six amino acids at the C-terminus of the alpha 1 (II) chain causes overmodification of type II and type XI collagen: further evidence for the association between small deletions in COL2A1 and Kniest dysplasiaA Winterpacht, A Superti-Furga, U Schwarze, et al.
Helvetica Paediatrica Acta|January 1, 1979
Congenital defect in intracellular cobalamin metabolism resulting in homocystinuria and methylmalonic aciduria. II. Biochemical investigationsE R Baumgartner, H Wick, J C Linnell, et al.
Clinical Genetics|December 1, 1994
Clinical, ultrastructural and biochemical studies in two sibs with Ehlers-Danlos syndrome type VI-B-like featuresG Oğur, N Baykan, A De Paepe, et al.
Helvetica Paediatrica Acta|March 1, 1983
Multiple acyl-Co A dehydrogenation deficiency (MADD) in a boy with nonketotic hypoglycemia, hepatomegaly, muscle hypotonia and cardiomyopathy. Detection of N-isovalerylglutamic acid and its monoamideA Niederwieser, B Steinmann, U Exner, et al.
Experimental and Molecular Pathology|August 1, 1994
Ultrastructural analysis of skin and aorta from a patient with Menkes diseaseI Pasquali-Ronchetti, M Baccarani-Contri, R D Young, et al.
Pageof 24

Showing results (191-200 of 238) with videos related to

Sort By:
Pageof 24
Helvetica Paediatrica Acta|February 1, 1978
Nonketotic hyperglycinemia treated with strychnine, a glycine receptor antagonistR Gitzelmann, B Steinmann, A Otten, et al.
Journal of Inherited Metabolic Disease|July 1, 1997
Short-chain acyl-CoA dehydrogenase deficiency in a 16-year-old girl with severe muscle wasting and scoliosisK E Baerlocher, B Steinmann, A Aguzzi, et al.
The Journal of Biological Chemistry|September 25, 1980
Evidence for a structural mutation of procollagen type I in a patient with the Ehlers-Danlos syndrome type VIIB Steinmann, L Tuderman, L Peltonen, et al.
European Journal of Pediatrics|August 1, 1988
Lethal osteogenesis imperfecta: abnormal collagen metabolism and biochemical characteristics of hypophosphatasiaP M Royce, A Blumberg, R P Zurbrügg, et al.
Journal of Medical Genetics|May 20, 2000
Clinical variability of Stickler syndrome with a COL2A1 haploinsufficiency mutation: implications for genetic counsellingJ Faber, A Winterpacht, B Zabel, et al.
Journal of Medical Genetics|August 1, 1996
The deletion of six amino acids at the C-terminus of the alpha 1 (II) chain causes overmodification of type II and type XI collagen: further evidence for the association between small deletions in COL2A1 and Kniest dysplasiaA Winterpacht, A Superti-Furga, U Schwarze, et al.
Helvetica Paediatrica Acta|January 1, 1979
Congenital defect in intracellular cobalamin metabolism resulting in homocystinuria and methylmalonic aciduria. II. Biochemical investigationsE R Baumgartner, H Wick, J C Linnell, et al.
Clinical Genetics|December 1, 1994
Clinical, ultrastructural and biochemical studies in two sibs with Ehlers-Danlos syndrome type VI-B-like featuresG Oğur, N Baykan, A De Paepe, et al.
Helvetica Paediatrica Acta|March 1, 1983
Multiple acyl-Co A dehydrogenation deficiency (MADD) in a boy with nonketotic hypoglycemia, hepatomegaly, muscle hypotonia and cardiomyopathy. Detection of N-isovalerylglutamic acid and its monoamideA Niederwieser, B Steinmann, U Exner, et al.
Experimental and Molecular Pathology|August 1, 1994
Ultrastructural analysis of skin and aorta from a patient with Menkes diseaseI Pasquali-Ronchetti, M Baccarani-Contri, R D Young, et al.
Pageof 24