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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-GreenSchweizer Archiv Fur Tierheilkunde|September 4, 2010
[Benefit of clinical and laboratory parameters for the diagnosis of endometritis in dairy cows]M Hässig, B Steinmann, M M WittenbrinkJournal of Molecular Biology|May 19, 1995
Truncated profibrillin of a Marfan patient is of apparent similar size as fibrillin: intracellular retention leads to over-N-glycosylationM Raghunath, C M Kielty, B SteinmannPlos One|May 19, 2010
Repeated and time-correlated morphological convergence in cave-dwelling harvestmen (Opiliones, Laniatores) from Montane Western North AmericaShahan Derkarabetian, David B Steinmann, Marshal HedinThe Journal of Biological Chemistry|July 5, 1986
Clinical variability of osteogenesis imperfecta reflecting molecular heterogeneity: cysteine substitutions in the alpha 1(I) collagen chain producing lethal and mild formsB Steinmann, A Nicholls, F M PopeJournal of Medical Genetics|June 11, 2009
Identification of loss-of-function mutations of SLC35D1 in patients with Schneckenbecken dysplasia, but not with other severe spondylodysplastic dysplasias group diseasesT Furuichi, H Kayserili, S Hiraoka, et al.American Journal of Human Genetics|March 21, 2000
Autosomal recessive disorder otospondylomegaepiphyseal dysplasia is associated with loss-of-function mutations in the COL11A2 geneM Melkoniemi, H G Brunner, S Manouvrier, et al.The Biochemical Journal|February 15, 1982
Copper metabolism in mottled mouse mutants. The effect of copper therapy on lysyl oxidase activity in brindled (Mobr) miceP M Royce, J Camakaris, J R Mann, et al.Methods of Information in Medicine|December 14, 2005
Marfan syndrome--a diagnostic challenge caused by phenotypic and genetic heterogeneityC Baumgartner, G Mátyás, B Steinmann, et al.Helvetica Paediatrica Acta|April 1, 1977
Uridine diphosphate galactose 4'-epimerase deficiency. IV. Report of eight cases in three familiesR Gitzelmann, B Steinmann, B Mitchell, et al.Pageof 25