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Praxis|March 21, 2002
[Early-onset generalized polyarthritis (Stickler syndrome)]J Mach, D Sobetzko, A Superti-Furga, et al.American Journal of Medical Genetics|March 4, 2000
Boy with syndactylies, macrocephaly, and severe skeletal dysplasia: not a new syndrome, but two dominant mutations (GLI3 E543X and COL2A1 G973R) in the same individualD Sobetzko, G Eich, M Kalff-Suske, et al.American Journal of Human Genetics|December 1, 1994
A defect in the metabolic activation of sulfate in a patient with achondrogenesis type IBA Superti-FurgaUltrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology|February 20, 2002
Diagnosis of skeletal dysplasia by multidisciplinary assessment: a report of two cases of thanatophoric dysplasiaN Kölble, D Sobetzko, J Ersch, et al.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-FurgaBiochemical and Biophysical Research Communications|January 15, 1988
Impaired secretion of type III procollagen in Ehlers-Danlos syndrome type IV fibroblasts: correction of the defect by incubation at reduced temperature and demonstration of subtle alterations in the triple-helical region of the moleculeA Superti-Furga, 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 HoffmannThe Journal of Biological Chemistry|January 15, 1991
Cyclosporin A slows collagen triple-helix formation in vivo: indirect evidence for a physiologic role of peptidyl-prolyl cis-trans-isomeraseB Steinmann, P Bruckner, A Superti-FurgaInternational Journal of Immunogenetics|May 23, 2006
Genetic polymorphisms of chitotriosidase in Caucasian children with bronchial asthmaS Bierbaum, A Superti-Furga, A HeinzmannPageof 19