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M Witsch-Baumgartner

Showing results (1-10 of 14) with videos related to

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Human Mutation|March 10, 2001
Mutations in the human DHCR7 geneM Witsch-Baumgartner, J Löffler, G Utermann
American Journal of Medical Genetics|July 27, 2001
Mutation screening in the DHCR7 gene of patients with attention deficit and hyperactivity disorderM Witsch-Baumgartner, J Loeffler, H J Menzel, et al.
Clinical Genetics|July 22, 2014
Characterization of large deletions in the DHCR7 geneB Lanthaler, K Hinderhofer, B Maas, 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.
Human Mutation|March 19, 2005
Identification of 14 novel mutations in DHCR7 causing the Smith-Lemli-Opitz syndrome and delineation of the DHCR7 mutational spectra in Spain and ItalyM Witsch-Baumgartner, P Clayton, N Clusellas, et al.
Journal of Medical Genetics|August 3, 2004
Maternal apo E genotype is a modifier of the Smith-Lemli-Opitz syndromeM Witsch-Baumgartner, M Gruber, H G Kraft, et al.
Clinical Genetics|November 4, 2004
DHCR7 mutations and genotype-phenotype correlation in 37 Polish patients with Smith-Lemli-Opitz syndromeE Ciara, M J M Nowaczyk, M Witsch-Baumgartner, et al.
Clinical Genetics|January 4, 2012
High frequency of p.Thr93Met in Smith-Lemli-Opitz syndrome patients in TurkeyS Kalb, A O Caglayan, A Degerliyurt, et al.
Human Reproduction (Oxford, England)|December 29, 2020
Andrological findings in infertile men with two (biallelic) CFTR mutations: results of a multicentre study in Germany and Austria comprising 71 patientsS Rudnik-Schöneborn, M Messner, M Vockel, et al.
British Journal of Cancer|May 3, 2014
Rac1 as a potential therapeutic target for chemo-radioresistant head and neck squamous cell carcinomas (HNSCC)S Skvortsov, J Dudás, P Eichberger, et al.
Pageof 2

Showing results (1-10 of 14) with videos related to

Sort By:
Pageof 2
Human Mutation|March 10, 2001
Mutations in the human DHCR7 geneM Witsch-Baumgartner, J Löffler, G Utermann
American Journal of Medical Genetics|July 27, 2001
Mutation screening in the DHCR7 gene of patients with attention deficit and hyperactivity disorderM Witsch-Baumgartner, J Loeffler, H J Menzel, et al.
Clinical Genetics|July 22, 2014
Characterization of large deletions in the DHCR7 geneB Lanthaler, K Hinderhofer, B Maas, 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.
Human Mutation|March 19, 2005
Identification of 14 novel mutations in DHCR7 causing the Smith-Lemli-Opitz syndrome and delineation of the DHCR7 mutational spectra in Spain and ItalyM Witsch-Baumgartner, P Clayton, N Clusellas, et al.
Journal of Medical Genetics|August 3, 2004
Maternal apo E genotype is a modifier of the Smith-Lemli-Opitz syndromeM Witsch-Baumgartner, M Gruber, H G Kraft, et al.
Clinical Genetics|November 4, 2004
DHCR7 mutations and genotype-phenotype correlation in 37 Polish patients with Smith-Lemli-Opitz syndromeE Ciara, M J M Nowaczyk, M Witsch-Baumgartner, et al.
Clinical Genetics|January 4, 2012
High frequency of p.Thr93Met in Smith-Lemli-Opitz syndrome patients in TurkeyS Kalb, A O Caglayan, A Degerliyurt, et al.
Human Reproduction (Oxford, England)|December 29, 2020
Andrological findings in infertile men with two (biallelic) CFTR mutations: results of a multicentre study in Germany and Austria comprising 71 patientsS Rudnik-Schöneborn, M Messner, M Vockel, et al.
British Journal of Cancer|May 3, 2014
Rac1 as a potential therapeutic target for chemo-radioresistant head and neck squamous cell carcinomas (HNSCC)S Skvortsov, J Dudás, P Eichberger, et al.
Pageof 2