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B Steinmann

Showing results (171-180 of 238) with videos related to

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European Journal of Pediatrics|March 1, 1990
Radiological "metamorphosis" in a patient with severe congenital osteogenesis imperfectaF Pendola, C Borrone, M Filocamo, et al.
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.
Annals of the New York Academy of Sciences|January 1, 1988
Delayed triple-helix formation of abnormal type I collagen is corrected by reduced temperature. Studies of a family with variable expression of osteogenesis imperfectaA Superti-Furga, P M Royce, F M Pistone, 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.
Schweizer Archiv Fur Tierheilkunde|November 1, 1984
[Dermatosparaxis in a foal and a cow--a rare disease?]P Witzig, M Suter, P Wild, et al.
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.
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.
Pageof 24

Showing results (171-180 of 238) with videos related to

Sort By:
Pageof 24
European Journal of Pediatrics|March 1, 1990
Radiological "metamorphosis" in a patient with severe congenital osteogenesis imperfectaF Pendola, C Borrone, M Filocamo, et al.
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.
Annals of the New York Academy of Sciences|January 1, 1988
Delayed triple-helix formation of abnormal type I collagen is corrected by reduced temperature. Studies of a family with variable expression of osteogenesis imperfectaA Superti-Furga, P M Royce, F M Pistone, 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.
Schweizer Archiv Fur Tierheilkunde|November 1, 1984
[Dermatosparaxis in a foal and a cow--a rare disease?]P Witzig, M Suter, P Wild, et al.
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.
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.
Pageof 24