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John M Opitz

Showing results (101-110 of 116) with videos related to

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American Journal of Medical Genetics. Part A|January 16, 2016
Screening of CD96 and ASXL1 in 11 patients with Opitz C or Bohring-Opitz syndromesRoser Urreizti, Neus Roca-Ayats, Judith Trepat, et al.
American Journal of Medical Genetics. Part A|October 7, 2005
XK-aprosencephaly and related entitiesG Renzetti, A Villani, C Bizzarri, et al.
American Journal of Medical Genetics. Part A|November 22, 2013
A novel germline PIGA mutation in Ferro-Cerebro-Cutaneous syndrome: a neurodegenerative X-linked epileptic encephalopathy with systemic iron-overloadKathryn J Swoboda, Rebecca L Margraf, John C Carey, et al.
American Journal of Medical Genetics. Part A|November 1, 2008
Behavior of 10 patients with FG syndrome (Opitz-Kaveggia syndrome) and the p.R961W mutation in the MED12 geneJohn M Graham, Jeannie Visootsak, Elisabeth Dykens, et al.
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.
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.
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.
Cell|May 12, 2015
Disruptions of topological chromatin domains cause pathogenic rewiring of gene-enhancer interactionsDarío G Lupiáñez, Katerina Kraft, Verena Heinrich, 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 12

Showing results (101-110 of 116) with videos related to

Sort By:
Pageof 12
American Journal of Medical Genetics. Part A|January 16, 2016
Screening of CD96 and ASXL1 in 11 patients with Opitz C or Bohring-Opitz syndromesRoser Urreizti, Neus Roca-Ayats, Judith Trepat, et al.
American Journal of Medical Genetics. Part A|October 7, 2005
XK-aprosencephaly and related entitiesG Renzetti, A Villani, C Bizzarri, et al.
American Journal of Medical Genetics. Part A|November 22, 2013
A novel germline PIGA mutation in Ferro-Cerebro-Cutaneous syndrome: a neurodegenerative X-linked epileptic encephalopathy with systemic iron-overloadKathryn J Swoboda, Rebecca L Margraf, John C Carey, et al.
American Journal of Medical Genetics. Part A|November 1, 2008
Behavior of 10 patients with FG syndrome (Opitz-Kaveggia syndrome) and the p.R961W mutation in the MED12 geneJohn M Graham, Jeannie Visootsak, Elisabeth Dykens, et al.
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.
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.
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.
Cell|May 12, 2015
Disruptions of topological chromatin domains cause pathogenic rewiring of gene-enhancer interactionsDarío G Lupiáñez, Katerina Kraft, Verena Heinrich, 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 12