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European Journal of Neurology|June 12, 2012
Zurich Fabry study - prevalence of Fabry disease in young patients with first cryptogenic ischaemic stroke or TIAH Sarikaya, M Yilmaz, N Michael, et al.
The Journal of Biological Chemistry|December 5, 1987
Ehlers-Danlos syndrome type VIIB. Deletion of 18 amino acids comprising the N-telopeptide region of a pro-alpha 2(I) chainM K Wirtz, R W Glanville, B Steinmann, et al.
Journal of Biomaterials Science. Polymer Edition|October 16, 2008
Collagen solubility testing, a quality assurance step for reproducible electro-spun nano-fibre fabrication. A technical noteD I Zeugolis, B Li, R R Lareu, et al.
Helvetica Paediatrica Acta|October 1, 1975
Ehlers-Danlos syndrome in two siblings with deficient lysyl hydroxylase activity in cultured skin fibroblasts but only mild hydroxylysine deficit in skinB Steinmann, R Gitzelmann, A Vogel, et al.
The Journal of Biological Chemistry|September 10, 1984
Cysteine in the triple-helical domain of one allelic product of the alpha 1(I) gene of type I collagen produces a lethal form of osteogenesis imperfectaB Steinmann, V H Rao, A Vogel, et al.
The Journal of Investigative Dermatology|October 9, 1998
The cutaneous microfibrillar apparatus contains latent transforming growth factor-beta binding protein-1 (LTBP-1) and is a repository for latent TGF-beta1M Raghunath, C Unsöld, U Kubitscheck, 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.
Deutsche Medizinische Wochenschrift (1946)|June 24, 1983
[Infusion-associated kidney and liver failure in undiagnosed hereditary fructose intolerance]D E Müller-Wiefel, B Steinmann, M Holm-Hadulla, 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.
The Journal of Investigative Dermatology|January 14, 1999
Confocal laser scanning analysis of the association of fibulin-2 with fibrillin-1 and fibronectin define different stages of skin regenerationM Raghunath, M Tschödrich-Rotter, T Sasaki, et al.
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