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B U Fitzky

Showing results (1-10 of 8) with videos related to

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Trends in Endocrinology and Metabolism: TEM|March 9, 2000
Genetic defects in postsqualene cholesterol biosynthesisF F Moebius, B U Fitzky, H Glossmann
Current Opinion in Lipidology|May 18, 1999
Molecular genetics of the Smith-Lemli-Opitz syndrome and postsqualene sterol metabolismB U Fitzky, H Glossmann, G Utermann, et al.
The Journal of Biological Chemistry|May 18, 1999
Cholesterol biosynthesis from lanosterol. Molecular cloning, tissue distribution, expression, chromosomal localization, and regulation of rat 7-dehydrocholesterol reductase, a Smith-Lemli-Opitz syndrome-related proteinS H Bae, J N Lee, B U Fitzky, et al.
Proceedings of the National Academy of Sciences of the United States of America|March 21, 1998
Molecular cloning and expression of the human delta7-sterol reductaseF F Moebius, B U Fitzky, J N Lee, et al.
Proceedings of the National Academy of Sciences of the United States of America|July 8, 1998
Mutations in the Delta7-sterol reductase gene in patients with the Smith-Lemli-Opitz syndromeB U Fitzky, M Witsch-Baumgartner, M Erdel, et al.
American Journal of Human Genetics|March 21, 2000
Mutational spectrum in the Delta7-sterol reductase gene and genotype-phenotype correlation in 84 patients with Smith-Lemli-Opitz syndromeM Witsch-Baumgartner, B U Fitzky, M Ogorelkova, et al.
European Journal of Human Genetics : EJHG|February 15, 2001
Frequency gradients of DHCR7 mutations in patients with Smith-Lemli-Opitz syndrome in Europe: evidence for different origins of common mutationsM Witsch-Baumgartner, E Ciara, J Löffler, et al.
The Journal of Clinical Investigation|September 19, 2001
7-Dehydrocholesterol-dependent proteolysis of HMG-CoA reductase suppresses sterol biosynthesis in a mouse model of Smith-Lemli-Opitz/RSH syndromeB U Fitzky, F F Moebius, H Asaoka, et al.
Pageof 1

Showing results (1-10 of 8) with videos related to

Sort By:
Pageof 1
Trends in Endocrinology and Metabolism: TEM|March 9, 2000
Genetic defects in postsqualene cholesterol biosynthesisF F Moebius, B U Fitzky, H Glossmann
Current Opinion in Lipidology|May 18, 1999
Molecular genetics of the Smith-Lemli-Opitz syndrome and postsqualene sterol metabolismB U Fitzky, H Glossmann, G Utermann, et al.
The Journal of Biological Chemistry|May 18, 1999
Cholesterol biosynthesis from lanosterol. Molecular cloning, tissue distribution, expression, chromosomal localization, and regulation of rat 7-dehydrocholesterol reductase, a Smith-Lemli-Opitz syndrome-related proteinS H Bae, J N Lee, B U Fitzky, et al.
Proceedings of the National Academy of Sciences of the United States of America|March 21, 1998
Molecular cloning and expression of the human delta7-sterol reductaseF F Moebius, B U Fitzky, J N Lee, et al.
Proceedings of the National Academy of Sciences of the United States of America|July 8, 1998
Mutations in the Delta7-sterol reductase gene in patients with the Smith-Lemli-Opitz syndromeB U Fitzky, M Witsch-Baumgartner, M Erdel, et al.
American Journal of Human Genetics|March 21, 2000
Mutational spectrum in the Delta7-sterol reductase gene and genotype-phenotype correlation in 84 patients with Smith-Lemli-Opitz syndromeM Witsch-Baumgartner, B U Fitzky, M Ogorelkova, et al.
European Journal of Human Genetics : EJHG|February 15, 2001
Frequency gradients of DHCR7 mutations in patients with Smith-Lemli-Opitz syndrome in Europe: evidence for different origins of common mutationsM Witsch-Baumgartner, E Ciara, J Löffler, et al.
The Journal of Clinical Investigation|September 19, 2001
7-Dehydrocholesterol-dependent proteolysis of HMG-CoA reductase suppresses sterol biosynthesis in a mouse model of Smith-Lemli-Opitz/RSH syndromeB U Fitzky, F F Moebius, H Asaoka, et al.
Pageof 1