Showing results (21-30 of 309) with videos related to
Sort By:
Pageof 31
American Journal of Medical Genetics|September 1, 1989
Ehlers-Danlos syndrome type IV: a subset of patients distinguished by low serum levels of the amino-terminal propeptide of type III procollagenB Steinmann, A Superti-Furga, H I Joller-Jemelka, et al.Journal of Medical Genetics|August 28, 1999
Recessively inherited multiple epiphyseal dysplasia with normal stature, club foot, and double layered patella caused by a DTDST mutationA Superti-Furga, L Neumann, T Riebel, et al.American Journal of Medical Genetics|July 23, 1998
Schwartz-Jampel syndrome type 2 and Stüve-Wiedemann syndrome: a case for "lumping"A Superti-Furga, R Tenconi, M Clementi, et al.Journal of Medical Genetics|August 1, 1996
The deletion of six amino acids at the C-terminus of the alpha 1 (II) chain causes overmodification of type II and type XI collagen: further evidence for the association between small deletions in COL2A1 and Kniest dysplasiaA Winterpacht, A Superti-Furga, U Schwarze, et al.The Journal of Biological Chemistry|March 15, 1991
Multiexon deletion in the procollagen III gene is associated with mild Ehlers-Danlos syndrome type IVH Vissing, M D'Alessio, B Lee, et al.American Journal of Medical Genetics|April 12, 2001
Infantile systemic hyalinosis in siblings: clinical report, biochemical and ultrastructural findings, and review of the literatureU Stucki, M A Spycher, G Eich, et al.European Journal of Pediatrics|March 1, 1995
A glycine 375-to-cysteine substitution in the transmembrane domain of the fibroblast growth factor receptor-3 in a newborn with achondroplasiaA Superti-Furga, G Eich, H U Bucher, 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-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.Pageof 31