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M Opitz

Showing results (501-510 of 520) with videos related to

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Nature Genetics|March 6, 2007
A recurrent mutation in MED12 leading to R961W causes Opitz-Kaveggia syndromeHiba Risheg, John M Graham, Robin D Clark, et al.
JCI Insight|March 30, 2021
Inhibition of HIF-prolyl hydroxylases improves healing of intestinal anastomosesMoritz J Strowitzki, Gwendolyn Kimmer, Julian Wehrmann, et al.
American Journal of Human Genetics|September 12, 2007
Mutations in CD96, a member of the immunoglobulin superfamily, cause a form of the C (Opitz trigonocephaly) syndromeTadashi Kaname, Kumiko Yanagi, Yasutsugu Chinen, et al.
Nature Genetics|November 14, 1997
Opitz G/BBB syndrome, a defect of midline development, is due to mutations in a new RING finger gene on Xp22N A Quaderi, S Schweiger, K Gaudenz, et al.
American Journal of Medical Genetics. Part A|November 18, 2008
A previously undescribed syndrome combining fibular agenesis/hypoplasia, oligodactylous clubfeet, anonychia/ungual hypoplasia, and other defectsSilvana C Santos, Eliete Pardono, Maria Ione Ferreira da Costa, et al.
Scientific Reports|March 11, 2017
A De Novo Nonsense Mutation in MAGEL2 in a Patient Initially Diagnosed as Opitz-C: Similarities Between Schaaf-Yang and Opitz-C SyndromesRoser Urreizti, Anna Maria Cueto-Gonzalez, Héctor Franco-Valls, et al.
Nature Genetics|December 1, 1995
Opitz syndrome is genetically heterogeneous, with one locus on Xp22, and a second locus on 22q11.2N H Robin, G J Feldman, A L Aronson, et al.
Cell|May 12, 2015
Disruptions of topological chromatin domains cause pathogenic rewiring of gene-enhancer interactionsDarío G Lupiáñez, Katerina Kraft, Verena Heinrich, et al.
American Journal of Medical Genetics|January 1, 1981
The dup(3q) syndrome: report of eight cases and review of the literatureP Steinbach, W N Adkins, H Caspar, et al.
Nature Genetics|February 7, 2012
Germline mutations in DIS3L2 cause the Perlman syndrome of overgrowth and Wilms tumor susceptibilityDewi Astuti, Mark R Morris, Wendy N Cooper, et al.
Pageof 52

Showing results (501-510 of 520) with videos related to

Sort By:
Pageof 52
Nature Genetics|March 6, 2007
A recurrent mutation in MED12 leading to R961W causes Opitz-Kaveggia syndromeHiba Risheg, John M Graham, Robin D Clark, et al.
JCI Insight|March 30, 2021
Inhibition of HIF-prolyl hydroxylases improves healing of intestinal anastomosesMoritz J Strowitzki, Gwendolyn Kimmer, Julian Wehrmann, et al.
American Journal of Human Genetics|September 12, 2007
Mutations in CD96, a member of the immunoglobulin superfamily, cause a form of the C (Opitz trigonocephaly) syndromeTadashi Kaname, Kumiko Yanagi, Yasutsugu Chinen, et al.
Nature Genetics|November 14, 1997
Opitz G/BBB syndrome, a defect of midline development, is due to mutations in a new RING finger gene on Xp22N A Quaderi, S Schweiger, K Gaudenz, et al.
American Journal of Medical Genetics. Part A|November 18, 2008
A previously undescribed syndrome combining fibular agenesis/hypoplasia, oligodactylous clubfeet, anonychia/ungual hypoplasia, and other defectsSilvana C Santos, Eliete Pardono, Maria Ione Ferreira da Costa, et al.
Scientific Reports|March 11, 2017
A De Novo Nonsense Mutation in MAGEL2 in a Patient Initially Diagnosed as Opitz-C: Similarities Between Schaaf-Yang and Opitz-C SyndromesRoser Urreizti, Anna Maria Cueto-Gonzalez, Héctor Franco-Valls, et al.
Nature Genetics|December 1, 1995
Opitz syndrome is genetically heterogeneous, with one locus on Xp22, and a second locus on 22q11.2N H Robin, G J Feldman, A L Aronson, et al.
Cell|May 12, 2015
Disruptions of topological chromatin domains cause pathogenic rewiring of gene-enhancer interactionsDarío G Lupiáñez, Katerina Kraft, Verena Heinrich, et al.
American Journal of Medical Genetics|January 1, 1981
The dup(3q) syndrome: report of eight cases and review of the literatureP Steinbach, W N Adkins, H Caspar, et al.
Nature Genetics|February 7, 2012
Germline mutations in DIS3L2 cause the Perlman syndrome of overgrowth and Wilms tumor susceptibilityDewi Astuti, Mark R Morris, Wendy N Cooper, et al.
Pageof 52