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Beat Steinmann

Showing results (41-50 of 66) with videos related to

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Circulation|March 16, 2013
Acute aortic dissection determines the fate of initially untreated aortic segments in Marfan syndromeFlorian S Schoenhoff, Silvan Jungi, Martin Czerny, et al.
Proceedings of the National Academy of Sciences of the United States of America|December 6, 2012
Promotion of vesicular zinc efflux by ZIP13 and its implications for spondylocheiro dysplastic Ehlers-Danlos syndromeJeeyon Jeong, Joel M Walker, Fudi Wang, et al.
European Journal of Human Genetics : EJHG|January 13, 2011
SUMF1 mutations affecting stability and activity of formylglycine generating enzyme predict clinical outcome in multiple sulfatase deficiencyLars Schlotawa, Eva Charlotte Ennemann, Karthikeyan Radhakrishnan, et al.
Clinical Chemistry and Laboratory Medicine|January 8, 2004
Mass spectrometric analysis of human transferrin in different body fluidsPeter Kleinert, Thomas Kuster, Silke Durka, et al.
The Journal of Thoracic and Cardiovascular Surgery|April 12, 2005
Diagnostic power of aortic elastic properties in young patients with Marfan syndromeDaniela Baumgartner, Christian Baumgartner, Gabor Mátyás, et al.
Arteriosclerosis, Thrombosis, and Vascular Biology|February 14, 2006
Cardiac and vascular hypertrophy in Fabry disease: evidence for a new mechanism independent of blood pressure and glycosphingolipid depositionFrédéric Barbey, Noureddine Brakch, Ales Linhart, et al.
Human Mutation|July 21, 2009
Quantitative sequence analysis of FBN1 premature termination codons provides evidence for incomplete NMD in leukocytesIstván Magyar, Dvora Colman, Eliane Arnold, et al.
European Journal of Pediatrics|August 20, 2003
Leigh syndrome due to compound heterozygosity of dihydrolipoamide dehydrogenase gene mutations. Description of the first E3 splice site mutationOlga Grafakou, Konrad Oexle, Lambert van den Heuvel, et al.
Human Mutation|May 10, 2005
The spectrum of aldolase B (ALDOB) mutations and the prevalence of hereditary fructose intolerance in Central EuropeRené Santer, Johannes Rischewski, Michaela von Weihe, et al.
American Journal of Human Genetics|June 3, 2008
Spondylocheiro dysplastic form of the Ehlers-Danlos syndrome--an autosomal-recessive entity caused by mutations in the zinc transporter gene SLC39A13Cecilia Giunta, Nursel H Elçioglu, Beate Albrecht, et al.
Pageof 7

Showing results (41-50 of 66) with videos related to

Sort By:
Pageof 7
Circulation|March 16, 2013
Acute aortic dissection determines the fate of initially untreated aortic segments in Marfan syndromeFlorian S Schoenhoff, Silvan Jungi, Martin Czerny, et al.
Proceedings of the National Academy of Sciences of the United States of America|December 6, 2012
Promotion of vesicular zinc efflux by ZIP13 and its implications for spondylocheiro dysplastic Ehlers-Danlos syndromeJeeyon Jeong, Joel M Walker, Fudi Wang, et al.
European Journal of Human Genetics : EJHG|January 13, 2011
SUMF1 mutations affecting stability and activity of formylglycine generating enzyme predict clinical outcome in multiple sulfatase deficiencyLars Schlotawa, Eva Charlotte Ennemann, Karthikeyan Radhakrishnan, et al.
Clinical Chemistry and Laboratory Medicine|January 8, 2004
Mass spectrometric analysis of human transferrin in different body fluidsPeter Kleinert, Thomas Kuster, Silke Durka, et al.
The Journal of Thoracic and Cardiovascular Surgery|April 12, 2005
Diagnostic power of aortic elastic properties in young patients with Marfan syndromeDaniela Baumgartner, Christian Baumgartner, Gabor Mátyás, et al.
Arteriosclerosis, Thrombosis, and Vascular Biology|February 14, 2006
Cardiac and vascular hypertrophy in Fabry disease: evidence for a new mechanism independent of blood pressure and glycosphingolipid depositionFrédéric Barbey, Noureddine Brakch, Ales Linhart, et al.
Human Mutation|July 21, 2009
Quantitative sequence analysis of FBN1 premature termination codons provides evidence for incomplete NMD in leukocytesIstván Magyar, Dvora Colman, Eliane Arnold, et al.
European Journal of Pediatrics|August 20, 2003
Leigh syndrome due to compound heterozygosity of dihydrolipoamide dehydrogenase gene mutations. Description of the first E3 splice site mutationOlga Grafakou, Konrad Oexle, Lambert van den Heuvel, et al.
Human Mutation|May 10, 2005
The spectrum of aldolase B (ALDOB) mutations and the prevalence of hereditary fructose intolerance in Central EuropeRené Santer, Johannes Rischewski, Michaela von Weihe, et al.
American Journal of Human Genetics|June 3, 2008
Spondylocheiro dysplastic form of the Ehlers-Danlos syndrome--an autosomal-recessive entity caused by mutations in the zinc transporter gene SLC39A13Cecilia Giunta, Nursel H Elçioglu, Beate Albrecht, et al.
Pageof 7