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Beat Steinmann

Showing results (1-10 of 66) with videos related to

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European Journal of Pediatrics|April 29, 2014
Richard Gitzelmann (23rd February 1930--31st October 2013)Beat Steinmann
Human Genetics|October 21, 2010
Gene symbol: COL1A2. Disease: Ehlers-Danlos syndrome type VIIBCecilia Giunta, Beat Steinmann
European Journal of Human Genetics : EJHG|August 16, 2012
Clinical utility gene card for: Ehlers-Danlos syndrome types I-VII and variants - update 2012Karin Mayer, Ingo Kennerknecht, Beat Steinmann
Molecular Genetics and Metabolism|August 15, 2002
Remark on utility and error rates of the allopurinol test in detecting mild ornithine transcarbamylase deficiencyKonrad Oexle, Luisa Bonafé, Beat Steinmann
European Journal of Human Genetics : EJHG|February 11, 2010
Clinical utility gene card for: Ehlers-Danlos syndrome types I-VIIKarin Mayer, Ingo Kennerknecht, Beat Steinmann
NMR in Biomedicine|October 15, 2003
Two-dimensional NMR spectroscopy of urinary glycosaminoglycans from patients with different mucopolysaccharidosesMichel Hochuli, Kurt Wüthrich, Beat Steinmann
Molecular Genetics and Metabolism|June 28, 2005
Mutation analysis of the PLOD1 gene: an efficient multistep approach to the molecular diagnosis of the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VIA)Cecilia Giunta, Ann Randolph, Beat Steinmann
Human Genetics|March 26, 2009
Novel human pathological mutations. Gene symbol: PLOD1. Disease: Ehlers-Danlos syndrome type VIA, kyphoscoliotic typeCecilia Giunta, Céline Bürer-Chambaz, Beat Steinmann
European Journal of Pediatrics|July 25, 2013
Transient pseudo-hypertriglyceridemia: a useful biochemical marker of fructose-1,6-bisphosphatase deficiencyBushra Afroze, Zabedah Yunus, Beat Steinmann, et al.
Gastroenterology|January 4, 2003
Intestinal glucose transport: evidence for a membrane traffic-based pathway in humansRené Santer, Georg Hillebrand, Beat Steinmann, et al.
Pageof 7

Showing results (1-10 of 66) with videos related to

Sort By:
Pageof 7
European Journal of Pediatrics|April 29, 2014
Richard Gitzelmann (23rd February 1930--31st October 2013)Beat Steinmann
Human Genetics|October 21, 2010
Gene symbol: COL1A2. Disease: Ehlers-Danlos syndrome type VIIBCecilia Giunta, Beat Steinmann
European Journal of Human Genetics : EJHG|August 16, 2012
Clinical utility gene card for: Ehlers-Danlos syndrome types I-VII and variants - update 2012Karin Mayer, Ingo Kennerknecht, Beat Steinmann
Molecular Genetics and Metabolism|August 15, 2002
Remark on utility and error rates of the allopurinol test in detecting mild ornithine transcarbamylase deficiencyKonrad Oexle, Luisa Bonafé, Beat Steinmann
European Journal of Human Genetics : EJHG|February 11, 2010
Clinical utility gene card for: Ehlers-Danlos syndrome types I-VIIKarin Mayer, Ingo Kennerknecht, Beat Steinmann
NMR in Biomedicine|October 15, 2003
Two-dimensional NMR spectroscopy of urinary glycosaminoglycans from patients with different mucopolysaccharidosesMichel Hochuli, Kurt Wüthrich, Beat Steinmann
Molecular Genetics and Metabolism|June 28, 2005
Mutation analysis of the PLOD1 gene: an efficient multistep approach to the molecular diagnosis of the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VIA)Cecilia Giunta, Ann Randolph, Beat Steinmann
Human Genetics|March 26, 2009
Novel human pathological mutations. Gene symbol: PLOD1. Disease: Ehlers-Danlos syndrome type VIA, kyphoscoliotic typeCecilia Giunta, Céline Bürer-Chambaz, Beat Steinmann
European Journal of Pediatrics|July 25, 2013
Transient pseudo-hypertriglyceridemia: a useful biochemical marker of fructose-1,6-bisphosphatase deficiencyBushra Afroze, Zabedah Yunus, Beat Steinmann, et al.
Gastroenterology|January 4, 2003
Intestinal glucose transport: evidence for a membrane traffic-based pathway in humansRené Santer, Georg Hillebrand, Beat Steinmann, et al.
Pageof 7