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Journal of Molecular Biology|February 25, 1994
Delayed triple helix formation of mutant collagen from patients with osteogenesis imperfectaM Raghunath, P Bruckner, B Steinmann
Clinica Chimica Acta; International Journal of Clinical Chemistry|May 15, 1989
Patients with hereditary fructose intolerance have normal erythrocyte aldolase activityR Gitzelmann, B Steinmann, P Tuchschmid
Enzyme|January 1, 1992
Essential fructosuria: increased levels of fructose 3-phosphate in erythrocytesA Petersen, B Steinmann, R Gitzelmann
American Journal of Human Genetics|August 1, 1986
Processing of types I and III procollagen in Ehlers-Danlos syndrome type VIIR Halila, B Steinmann, L Peltonen
Clinical Genetics|May 8, 2010
Stüve-Wiedemann syndrome: long-term follow-up and genetic heterogeneityC Jung, N Dagoneau, G Baujat, et al.
Clinical Genetics|December 16, 2010
Clinical and molecular characterization of Diastrophic Dysplasia in the Portuguese populationM Barbosa, A B Sousa, A Medeira, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry|May 9, 1983
Hepatic glycogen synthetase deficiency not expressed in cultured skin fibroblastsR Gitzelmann, B Steinmann, A Aynsley-Green
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