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B Steinmann

Showing results (161-170 of 238) with videos related to

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Environmental Health Perspectives|May 3, 2001
In vitro and in vivo estrogenicity of UV screensM Schlumpf, B Cotton, M Conscience, et al.
Laboratory Investigation; a Journal of Technical Methods and Pathology|February 1, 1979
Abnormal collagen fibril structure in the gravis form (type I) of Ehlers-Danlos syndromeA Vogel, K A Holbrook, B Steinmann, et al.
Neurology|February 1, 1993
Nonketotic hyperglycinemia: clinical and electrophysiologic effects of dextromethorphan, an antagonist of the NMDA receptorB Schmitt, B Steinmann, R Gitzelmann, et al.
American Journal of Medical Genetics|March 10, 2001
Calvarial "doughnut lesions": clinical spectrum of the syndrome, report on a case, and review of the literatureD Baumgartner, I Gassner, W Sperl, et al.
Helvetica Paediatrica Acta|May 1, 1984
Neonatal severe primary hyperparathyroidism and alkaptonuria in a boy born to related parents with familial hypocalciuric hypercalcemiaB Steinmann, H E Gnehm, V H Rao, et al.
The Biochemical Journal|November 1, 1991
Substitution of cysteine for glycine-alpha 1-691 in the pro alpha 1(I) chain of type I procollagen in a proband with lethal osteogenesis imperfecta destabilizes the triple helix at a site C-terminal to the substitutionB Steinmann, A Westerhausen, C D Constantinou, et al.
American Journal of Human Genetics|March 1, 1991
Characterization of a large deletion associated with a polymorphic block of repeated dinucleotides in the type III procollagen gene (COL3A1) of a patient with Ehlers-Danlos syndrome type IVB Lee, M D'Alessio, H Vissing, et al.
American Journal of Medical Genetics|May 7, 2002
Homozygous Gly530Ser substitution in COL5A1 causes mild classical Ehlers-Danlos syndromeC Giunta, L Nuytinck, M Raghunath, et al.
Journal of Inherited Metabolic Disease|November 13, 2007
Elevated serum biotinidase activity in hepatic glycogen storage disorders--a convenient biomarkerP Paesold-Burda, M R Baumgartner, R Santer, et al.
European Radiology|April 18, 2002
Proton magnetic resonance spectroscopy of the brain of a neonate with nonketotic hyperglycinemia: in vivo-in vitro (ex vivo) correlationT A G M Huisman, T Thiel, B Steinmann, et al.
Pageof 24

Showing results (161-170 of 238) with videos related to

Sort By:
Pageof 24
Environmental Health Perspectives|May 3, 2001
In vitro and in vivo estrogenicity of UV screensM Schlumpf, B Cotton, M Conscience, et al.
Laboratory Investigation; a Journal of Technical Methods and Pathology|February 1, 1979
Abnormal collagen fibril structure in the gravis form (type I) of Ehlers-Danlos syndromeA Vogel, K A Holbrook, B Steinmann, et al.
Neurology|February 1, 1993
Nonketotic hyperglycinemia: clinical and electrophysiologic effects of dextromethorphan, an antagonist of the NMDA receptorB Schmitt, B Steinmann, R Gitzelmann, et al.
American Journal of Medical Genetics|March 10, 2001
Calvarial "doughnut lesions": clinical spectrum of the syndrome, report on a case, and review of the literatureD Baumgartner, I Gassner, W Sperl, et al.
Helvetica Paediatrica Acta|May 1, 1984
Neonatal severe primary hyperparathyroidism and alkaptonuria in a boy born to related parents with familial hypocalciuric hypercalcemiaB Steinmann, H E Gnehm, V H Rao, et al.
The Biochemical Journal|November 1, 1991
Substitution of cysteine for glycine-alpha 1-691 in the pro alpha 1(I) chain of type I procollagen in a proband with lethal osteogenesis imperfecta destabilizes the triple helix at a site C-terminal to the substitutionB Steinmann, A Westerhausen, C D Constantinou, et al.
American Journal of Human Genetics|March 1, 1991
Characterization of a large deletion associated with a polymorphic block of repeated dinucleotides in the type III procollagen gene (COL3A1) of a patient with Ehlers-Danlos syndrome type IVB Lee, M D'Alessio, H Vissing, et al.
American Journal of Medical Genetics|May 7, 2002
Homozygous Gly530Ser substitution in COL5A1 causes mild classical Ehlers-Danlos syndromeC Giunta, L Nuytinck, M Raghunath, et al.
Journal of Inherited Metabolic Disease|November 13, 2007
Elevated serum biotinidase activity in hepatic glycogen storage disorders--a convenient biomarkerP Paesold-Burda, M R Baumgartner, R Santer, et al.
European Radiology|April 18, 2002
Proton magnetic resonance spectroscopy of the brain of a neonate with nonketotic hyperglycinemia: in vivo-in vitro (ex vivo) correlationT A G M Huisman, T Thiel, B Steinmann, et al.
Pageof 24