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Neuromuscular Disorders : NMD|March 29, 2005
Morphological, clinical and genetic aspects in a family with a novel LAMP-2 gene mutation (Danon disease)J A Lobrinus, D F Schorderet, M Payot, et al.Journal of Inherited Metabolic Disease|January 1, 1982
Normal hydroxylation of proline in collagen synthesized by skin fibroblasts from a patient with prolidase deficiencyP M Royce, D M DanksThe Biochemical Journal|September 1, 1985
Failure of highly purified lysyl hydroxylase to hydroxylate lysyl residues in the non-helical regions of collagenP M Royce, M J BarnesConnective Tissue Research|January 1, 1988
Interaction of embryonic chick calvarial bone cells with collagen substrata; attachment characteristics and growth behaviourP M Royce, M J BarnesConnective Tissue Research|January 1, 1979
Fluorimetric determination of DNA in papain digests of cartilage, using ethidium bromideP M Royce, D A LowtherNature Genetics|May 20, 1998
Mutation and deletion of the pseudoautosomal gene SHOX cause Leri-Weill dyschondrosteosisD J Shears, H J Vassal, F R Goodman, et al.Klinische Padiatrie|June 2, 2010
Novel homozygous mutation (c.175delG) in platelet glycoprotein ITGA2B gene as cause of Glanzmann's thrombasthenia type IC Vannier, W Behnisch, I Bartsch, et al.Journal of Inherited Metabolic Disease|August 6, 2008
Congenital disorder of glycosylation type Id (CDG Id): phenotypic, biochemical and molecular characterization of a new patientA Rimella-Le-Huu, H Henry, I Kern, et al.Helvetica Paediatrica Acta|January 1, 1979
Strychnine treatment attempted in newborn twins with severe nonketotic hyperglycinemiaB Steinmann, R GitzelmannFEBS Letters|March 31, 1986
Structural study of a mutant type I collagen from a patient with lethal osteogenesis imperfecta containing an intramolecular disulfide bond in the triple-helical domainW Traub, B SteinmannPageof 25