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Human Mutation|March 10, 2001
Mutations in the diastrophic dysplasia sulfate transporter (DTDST) gene (SLC26A2): 22 novel mutations, mutation review, associated skeletal phenotypes, and diagnostic relevanceA Rossi, A Superti-FurgaMatrix Biology : Journal of the International Society for Matrix Biology|November 20, 1998
Proteoglycan sulfation in cartilage and cell cultures from patients with sulfate transporter chondrodysplasias: relationship to clinical severity and indications on the role of intracellular sulfate productionA Rossi, I Kaitila, W R Wilcox, et al.European Journal of Pediatrics|January 1, 1993
Pearson bone marrow-pancreas syndrome with insulin-dependent diabetes, progressive renal tubulopathy, organic aciduria and elevated fetal haemoglobin caused by deletion and duplication of mitochondrial DNAA Superti-Furga, E Schoenle, P Tuchschmid, et al.Connective Tissue Research|January 1, 1993
Normal production, nature, and extent of intracellular degradation of newly synthesized collagen in fibroblasts from a patient with prolidase deficiencyV H Rao, P M Royce, B SteinmannEuropean Journal of Pediatrics|December 10, 1997
Glutaric aciduria type 1 (glutaryl-CoA-dehydrogenase deficiency): advances and unanswered questions. Report from an international meetingA Superti-Furga, G F HoffmannInternational Journal of Immunogenetics|May 23, 2006
Genetic polymorphisms of chitotriosidase in Caucasian children with bronchial asthmaS Bierbaum, A Superti-Furga, A HeinzmannHuman Genetics|December 1, 1996
Phenotypic and genotypic overlap between atelosteogenesis type 2 and diastrophic dysplasiaA Rossi, H J van der Harten, F A Beemer, et al.American Journal of Medical Genetics|March 14, 2002
Molecular-pathogenetic classification of genetic disorders of the skeletonA Superti-Furga, L Bonafé, D L RimoinEuropean Journal of Pediatrics|March 1, 1997
Heterogeneity in Schwartz-Jampel chondrodystrophic myotoniaA Giedion, E Boltshauser, J Briner, et al.Journal of Medical Genetics|December 1, 1992
Deficiencies of fibrillin and decorin in fibroblast cultures of a patient with neonatal Marfan syndromeA Superti-Furga, M Raghunath, P J WillemsPageof 25