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B Steinmann

Showing results (131-140 of 238) with videos related to

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European Journal of Pediatrics|May 1, 1988
The neonatal pseudo-hydrocephalic progeroid syndrome (Wiedemann-Rautenstrauch). Report of a new patient and review of the literatureC Rudin, L Thommen, C Fliegel, et al.
American Journal of Medical Genetics|August 26, 1998
Sibs affected with both Ehlers-Danlos syndrome type IV and cystic fibrosisA Jarisch, C Giunta, S Zielen, et al.
The Journal of Biological Chemistry|March 15, 1991
G to T transversion at position +5 of a splice donor site causes skipping of the preceding exon in the type III procollagen transcripts of a patient with Ehlers-Danlos syndrome type IVB Lee, E Vitale, A Superti-Furga, et al.
Human Genetics|June 1, 1993
SSCP detection of a Gly565Val substitution in the pro alpha 1(I) collagen chain resulting in osteogenesis imperfecta type IIK Mackay, A M Lund, M Raghunath, et al.
Helvetica Paediatrica Acta|January 1, 1979
Congenital defect in intracellular cobalamin metabolism resulting in homocysteinuria and methylmalonic aciduria. I. Case report and histopathologyE R Baumgartner, H Wick, R Maurer, et al.
Clinical Genetics|June 1, 1996
Ehlers-Danlos syndrome type IV caused by Gly400Glu, Gly595Cys and Gly1003Asp substitutions in collagen III: clinical features, biochemical screening, and molecular confirmationK Mackay, M Raghunath, A Superti-Furga, et al.
Archives of Biochemistry and Biophysics|October 15, 1983
Ascorbate deficiency results in decreased collagen production: under-hydroxylation of proline leads to increased intracellular degradationR A Berg, B Steinmann, S I Rennard, et al.
The Journal of Biological Chemistry|November 15, 1988
The structure of human collagen type IX and its organization in fetal and infant cartilage fibrilsP Bruckner, M Mendler, B Steinmann, et al.
Annals of the New York Academy of Sciences|January 1, 1988
Normal thermal stability of an overmodified type I collagen despite a structural mutation within the triple helical region in a case of osteogenesis imperfecta type IVBP M Royce, A Superti-Furga, V H Rao, et al.
European Journal of Pediatrics|April 1, 1990
Brittle cornea syndrome: an heritable connective tissue disorder distinct from Ehlers-Danlos syndrome type VI and fragilitas oculi, with spontaneous perforations of the eye, blue sclerae, red hair, and normal collagen lysyl hydroxylationP M Royce, B Steinmann, A Vogel, et al.
Pageof 24

Showing results (131-140 of 238) with videos related to

Sort By:
Pageof 24
European Journal of Pediatrics|May 1, 1988
The neonatal pseudo-hydrocephalic progeroid syndrome (Wiedemann-Rautenstrauch). Report of a new patient and review of the literatureC Rudin, L Thommen, C Fliegel, et al.
American Journal of Medical Genetics|August 26, 1998
Sibs affected with both Ehlers-Danlos syndrome type IV and cystic fibrosisA Jarisch, C Giunta, S Zielen, et al.
The Journal of Biological Chemistry|March 15, 1991
G to T transversion at position +5 of a splice donor site causes skipping of the preceding exon in the type III procollagen transcripts of a patient with Ehlers-Danlos syndrome type IVB Lee, E Vitale, A Superti-Furga, et al.
Human Genetics|June 1, 1993
SSCP detection of a Gly565Val substitution in the pro alpha 1(I) collagen chain resulting in osteogenesis imperfecta type IIK Mackay, A M Lund, M Raghunath, et al.
Helvetica Paediatrica Acta|January 1, 1979
Congenital defect in intracellular cobalamin metabolism resulting in homocysteinuria and methylmalonic aciduria. I. Case report and histopathologyE R Baumgartner, H Wick, R Maurer, et al.
Clinical Genetics|June 1, 1996
Ehlers-Danlos syndrome type IV caused by Gly400Glu, Gly595Cys and Gly1003Asp substitutions in collagen III: clinical features, biochemical screening, and molecular confirmationK Mackay, M Raghunath, A Superti-Furga, et al.
Archives of Biochemistry and Biophysics|October 15, 1983
Ascorbate deficiency results in decreased collagen production: under-hydroxylation of proline leads to increased intracellular degradationR A Berg, B Steinmann, S I Rennard, et al.
The Journal of Biological Chemistry|November 15, 1988
The structure of human collagen type IX and its organization in fetal and infant cartilage fibrilsP Bruckner, M Mendler, B Steinmann, et al.
Annals of the New York Academy of Sciences|January 1, 1988
Normal thermal stability of an overmodified type I collagen despite a structural mutation within the triple helical region in a case of osteogenesis imperfecta type IVBP M Royce, A Superti-Furga, V H Rao, et al.
European Journal of Pediatrics|April 1, 1990
Brittle cornea syndrome: an heritable connective tissue disorder distinct from Ehlers-Danlos syndrome type VI and fragilitas oculi, with spontaneous perforations of the eye, blue sclerae, red hair, and normal collagen lysyl hydroxylationP M Royce, B Steinmann, A Vogel, et al.
Pageof 24