Showing results (31-40 of 309) with videos related to
Sort By:
Pageof 31
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.European 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 WillemsPraxis|March 21, 2002
[Early-onset generalized polyarthritis (Stickler syndrome)]J Mach, D Sobetzko, A Superti-Furga, et al.The New England Journal of Medicine|March 9, 2000
Clinical and genetic features of Ehlers-Danlos syndrome type IV, the vascular typeM Pepin, U Schwarze, A Superti-Furga, et al.Human Genetics|May 26, 1998
The human glutaryl-CoA dehydrogenase gene: report of intronic sequences and of 13 novel mutations causing glutaric aciduria type IM Schwartz, E Christensen, A Superti-Furga, et al.Pageof 31