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The Biochemical Journal|September 15, 1994
Analyses of truncated fibrillin caused by a 366 bp deletion in the FBN1 gene resulting in Marfan syndromeM Raghunath, C M Kielty, K Kainulainen, et al.European Journal of Human Genetics : EJHG|October 22, 1998
Identification of fifteen novel mutations in the tissue-nonspecific alkaline phosphatase (TNSALP) gene in European patients with severe hypophosphatasiaE Mornet, A Taillandier, S Peyramaure, et al.Nature Genetics|November 1, 1992
A homozygous stop codon in the lysyl hydroxylase gene in two siblings with Ehlers-Danlos syndrome type VIJ Hyland, L Ala-Kokko, P Royce, et al.Journal of Clinical Chemistry and Clinical Biochemistry. Zeitschrift Fur Klinische Chemie Und Klinische Biochemie|April 1, 1982
A new high performance liquid chromatography (HPLC) method for the quantitation of strychnine in urine and tissue extractsT Egloff, A Niederwieser, K Pfister, et al.American Journal of Human Genetics|January 1, 1990
Missense mutations associated with RFLP haplotypes 1 and 4 of the human phenylalanine hydroxylase geneY Okano, T Wang, R C Eisensmith, et al.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.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.Acta Paediatrica (Oslo, Norway : 1992)|August 1, 1998
Ehlers-Danlos Syndrome Type VI (EDS VI): problems of diagnosis and managementP Heim, M Raghunath, L Meiss, et al.Pageof 25