Human molecular genetics - JoVE Visualize

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Human Molecular Genetics|February 8, 2017

Identification and validation of seven new loci showing differential DNA methylation related to serum lipid profile: an epigenome-wide approach. The REGICOR studyS Sayols-Baixeras, I Subirana, C Lluis-Ganella, et al.

Human Molecular Genetics|February 8, 2017

Mutations in the polyglutamylase gene TTLL5, expressed in photoreceptor cells and spermatozoa, are associated with cone-rod degeneration and reduced male fertilityNicola Bedoni, Lonneke Haer-Wigman, Veronika Vaclavik, et al.

Human Molecular Genetics|August 15, 2019

Gene replacement therapy after neuropathy onset provides therapeutic benefit in a model of CMT1XA Kagiava, J Richter, C Tryfonos, et al.

Human Molecular Genetics|August 15, 2019

Spp1 (osteopontin) promotes TGFβ processing in fibroblasts of dystrophin-deficient muscles through matrix metalloproteinasesIrina Kramerova, Chino Kumagai-Cresse, Natalia Ermolova, et al.

Human Molecular Genetics|December 26, 2003

Gain-of-function polymorphism in mouse and human Ltk: implications for the pathogenesis of systemic lupus erythematosusNa Li, Kazuhiro Nakamura, Yi Jiang, et al.

Human Molecular Genetics|December 3, 2004

Identification and functional consequences of a novel MRE11 mutation affecting 10 Saudi Arabian patients with the ataxia telangiectasia-like disorderMarie Fernet, Moez Gribaa, Mustafa A M Salih, et al.

Human Molecular Genetics|December 14, 2004

In vitro analysis of partial loss-of-function ZIC2 mutations in holoprosencephaly: alanine tract expansion modulates DNA binding and transactivationLucia Brown, Melinda Paraso, Ruth Arkell, et al.

Human Molecular Genetics|December 14, 2004

Myosin XVa and whirlin, two deafness gene products required for hair bundle growth, are located at the stereocilia tips and interact directlyBenjamin Delprat, Vincent Michel, Richard Goodyear, et al.

Human Molecular Genetics|December 24, 2004

Epigenetic overlap in autism-spectrum neurodevelopmental disorders: MECP2 deficiency causes reduced expression of UBE3A and GABRB3Rodney C Samaco, Amber Hogart, Janine M LaSalle

Human Molecular Genetics|December 24, 2004

Elevated amyloid beta protein (Abeta42) and late onset Alzheimer's disease are associated with single nucleotide polymorphisms in the urokinase-type plasminogen activator geneNilüfer Ertekin-Taner, James Ronald, Lars Feuk, et al.

Pageof 1,195

Showing results (281-290 of 11,950) with videos related to

Sort By:

Pageof 1,195

Human Molecular Genetics|February 8, 2017

Identification and validation of seven new loci showing differential DNA methylation related to serum lipid profile: an epigenome-wide approach. The REGICOR studyS Sayols-Baixeras, I Subirana, C Lluis-Ganella, et al.

Human Molecular Genetics|February 8, 2017

Mutations in the polyglutamylase gene TTLL5, expressed in photoreceptor cells and spermatozoa, are associated with cone-rod degeneration and reduced male fertilityNicola Bedoni, Lonneke Haer-Wigman, Veronika Vaclavik, et al.

Human Molecular Genetics|August 15, 2019

Gene replacement therapy after neuropathy onset provides therapeutic benefit in a model of CMT1XA Kagiava, J Richter, C Tryfonos, et al.

Human Molecular Genetics|August 15, 2019

Spp1 (osteopontin) promotes TGFβ processing in fibroblasts of dystrophin-deficient muscles through matrix metalloproteinasesIrina Kramerova, Chino Kumagai-Cresse, Natalia Ermolova, et al.

Human Molecular Genetics|December 26, 2003

Gain-of-function polymorphism in mouse and human Ltk: implications for the pathogenesis of systemic lupus erythematosusNa Li, Kazuhiro Nakamura, Yi Jiang, et al.

Human Molecular Genetics|December 3, 2004

Identification and functional consequences of a novel MRE11 mutation affecting 10 Saudi Arabian patients with the ataxia telangiectasia-like disorderMarie Fernet, Moez Gribaa, Mustafa A M Salih, et al.

Human Molecular Genetics|December 14, 2004

In vitro analysis of partial loss-of-function ZIC2 mutations in holoprosencephaly: alanine tract expansion modulates DNA binding and transactivationLucia Brown, Melinda Paraso, Ruth Arkell, et al.

Human Molecular Genetics|December 14, 2004

Myosin XVa and whirlin, two deafness gene products required for hair bundle growth, are located at the stereocilia tips and interact directlyBenjamin Delprat, Vincent Michel, Richard Goodyear, et al.

Human Molecular Genetics|December 24, 2004

Epigenetic overlap in autism-spectrum neurodevelopmental disorders: MECP2 deficiency causes reduced expression of UBE3A and GABRB3Rodney C Samaco, Amber Hogart, Janine M LaSalle

Human Molecular Genetics|December 24, 2004

Elevated amyloid beta protein (Abeta42) and late onset Alzheimer's disease are associated with single nucleotide polymorphisms in the urokinase-type plasminogen activator geneNilüfer Ertekin-Taner, James Ronald, Lars Feuk, et al.

Pageof 1,195