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Denise Horn

Showing results (21-30 of 166) with videos related to

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American Journal of Medical Genetics. Part A|December 18, 2003
Prenatal diagnosis of fetal trisomy 6 mosaicism and phenotype of the affected newbornRolf-Dieter Wegner, Michael Entezami, Ute Knoll, et al.
American Journal of Human Genetics|October 28, 2008
The Human Phenotype Ontology: a tool for annotating and analyzing human hereditary diseasePeter N Robinson, Sebastian Köhler, Sebastian Bauer, et al.
The Journal of Biological Chemistry|August 26, 2011
Cohen syndrome-associated protein, COH1, is a novel, giant Golgi matrix protein required for Golgi integrityWenke Seifert, Jirko Kühnisch, Tanja Maritzen, et al.
Muscle & Nerve|October 15, 2013
De novo partial deletion in GRID2 presenting with complicated spastic paraplegiaAndré Maier, Eva Klopocki, Denise Horn, et al.
Gene|April 10, 2013
Combined deletion 18q22.2 and duplication/triplication 18q22.1 causes microcephaly, mental retardation and leukencephalopathySylvie Nguyen-Minh, Katrin Drossel, Denise Horn, et al.
European Journal of Medical Genetics|May 21, 2011
Homozygous deletion of chromosome 15q13.3 including CHRNA7 causes severe mental retardation, seizures, muscular hypotonia, and the loss of KLF13 and TRPM1 potentially cause macrocytosis and congenital retinal dysfunction in siblingsMalte Spielmann, Gabriele Reichelt, Christoph Hertzberg, et al.
European Journal of Medical Genetics|February 22, 2011
Microdeletions of chromosome 7p21, including TWIST1, associated with significant microcephaly, facial dysmorphism, and short statureAndreas Busche, Luitgard M Graul-Neumann, Christiane Zweier, et al.
American Journal of Medical Genetics. Part A|March 28, 2017
A de novo nonsense mutation in ZBTB18 plus a de novo 15q13.3 microdeletion in a 6-year-old femaleNadja Ehmke, Sylvio Karge, Johannes Buchmann, et al.
BMC Medical Genetics|December 1, 2014
Expanded spectrum of exon 33 and 34 mutations in SRCAP and follow-up in patients with Floating-Harbor syndromeWenke Seifert, Peter Meinecke, Gabriele Krüger, et al.
American Journal of Medical Genetics. Part A|January 28, 2023
Novel noncanonical splice site variant causes mild CHD7-related disorder with variable intrafamilial expressivityFelix Boschann, Sabine Kosmehl, Marc Bloching, et al.
Pageof 17

Showing results (21-30 of 166) with videos related to

Sort By:
Pageof 17
American Journal of Medical Genetics. Part A|December 18, 2003
Prenatal diagnosis of fetal trisomy 6 mosaicism and phenotype of the affected newbornRolf-Dieter Wegner, Michael Entezami, Ute Knoll, et al.
American Journal of Human Genetics|October 28, 2008
The Human Phenotype Ontology: a tool for annotating and analyzing human hereditary diseasePeter N Robinson, Sebastian Köhler, Sebastian Bauer, et al.
The Journal of Biological Chemistry|August 26, 2011
Cohen syndrome-associated protein, COH1, is a novel, giant Golgi matrix protein required for Golgi integrityWenke Seifert, Jirko Kühnisch, Tanja Maritzen, et al.
Muscle & Nerve|October 15, 2013
De novo partial deletion in GRID2 presenting with complicated spastic paraplegiaAndré Maier, Eva Klopocki, Denise Horn, et al.
Gene|April 10, 2013
Combined deletion 18q22.2 and duplication/triplication 18q22.1 causes microcephaly, mental retardation and leukencephalopathySylvie Nguyen-Minh, Katrin Drossel, Denise Horn, et al.
European Journal of Medical Genetics|May 21, 2011
Homozygous deletion of chromosome 15q13.3 including CHRNA7 causes severe mental retardation, seizures, muscular hypotonia, and the loss of KLF13 and TRPM1 potentially cause macrocytosis and congenital retinal dysfunction in siblingsMalte Spielmann, Gabriele Reichelt, Christoph Hertzberg, et al.
European Journal of Medical Genetics|February 22, 2011
Microdeletions of chromosome 7p21, including TWIST1, associated with significant microcephaly, facial dysmorphism, and short statureAndreas Busche, Luitgard M Graul-Neumann, Christiane Zweier, et al.
American Journal of Medical Genetics. Part A|March 28, 2017
A de novo nonsense mutation in ZBTB18 plus a de novo 15q13.3 microdeletion in a 6-year-old femaleNadja Ehmke, Sylvio Karge, Johannes Buchmann, et al.
BMC Medical Genetics|December 1, 2014
Expanded spectrum of exon 33 and 34 mutations in SRCAP and follow-up in patients with Floating-Harbor syndromeWenke Seifert, Peter Meinecke, Gabriele Krüger, et al.
American Journal of Medical Genetics. Part A|January 28, 2023
Novel noncanonical splice site variant causes mild CHD7-related disorder with variable intrafamilial expressivityFelix Boschann, Sabine Kosmehl, Marc Bloching, et al.
Pageof 17