Human molecular genetics - JoVE Visualize

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Human Molecular Genetics|May 25, 2025

The NeflE397K mouse model demonstrates muscle pathology and motor function deficits consistent with CMT2EDennis O Pérez-López, Audrey A Shively, F Javier Llorente Torres, et al.

Human Molecular Genetics|May 27, 2025

KDM2B variants in the CxxC domain impair its DNA-binding ability and cause a distinct neurodevelopmental syndromeAmber S E van Oirsouw, Michael A Hadders, Martijn Koetsier, et al.

Human Molecular Genetics|March 11, 1999

Genome-wide screen for systemic lupus erythematosus susceptibility genes in multiplex familiesR Shai, F P Quismorio, L Li, et al.

Human Molecular Genetics|March 11, 1999

Mutations of OCTN2, an organic cation/carnitine transporter, lead to deficient cellular carnitine uptake in primary carnitine deficiencyN L Tang, V Ganapathy, X Wu, et al.

Human Molecular Genetics|March 11, 1999

Two novel genes in the center of the 11p15 imprinted domain escape genomic imprintingM P Lee, S Brandenburg, G M Landes, et al.

Human Molecular Genetics|April 10, 1999

The RNA-binding properties of SMN: deletion analysis of the zebrafish orthologue defines domains conserved in evolutionS Bertrandy, P Burlet, O Clermont, et al.

Human Molecular Genetics|April 10, 1999

Formation of polyglutamine inclusions in non-CNS tissueK Sathasivam, C Hobbs, M Turmaine, et al.

Human Molecular Genetics|April 10, 1999

Mismatch repair gene defects contribute to the genetic basis of double primary cancers of the colorectum and endometriumA L Millar, T Pal, L Madlensky, et al.

Human Molecular Genetics|April 10, 1999

Adrenoleukodystrophy-related protein can compensate functionally for adrenoleukodystrophy protein deficiency (X-ALD): implications for therapyA Netik, S Forss-Petter, A Holzinger, et al.

Human Molecular Genetics|April 10, 1999

Alterations in the CSB gene in three Italian patients with the severe form of Cockayne syndrome (CS) but without clinical photosensitivityS Colella, T Nardo, D Mallery, et al.

Pageof 1,196

Showing results (541-550 of 11,953) with videos related to

Sort By:

Pageof 1,196

Human Molecular Genetics|May 25, 2025

The NeflE397K mouse model demonstrates muscle pathology and motor function deficits consistent with CMT2EDennis O Pérez-López, Audrey A Shively, F Javier Llorente Torres, et al.

Human Molecular Genetics|May 27, 2025

KDM2B variants in the CxxC domain impair its DNA-binding ability and cause a distinct neurodevelopmental syndromeAmber S E van Oirsouw, Michael A Hadders, Martijn Koetsier, et al.

Human Molecular Genetics|March 11, 1999

Genome-wide screen for systemic lupus erythematosus susceptibility genes in multiplex familiesR Shai, F P Quismorio, L Li, et al.

Human Molecular Genetics|March 11, 1999

Mutations of OCTN2, an organic cation/carnitine transporter, lead to deficient cellular carnitine uptake in primary carnitine deficiencyN L Tang, V Ganapathy, X Wu, et al.

Human Molecular Genetics|March 11, 1999

Two novel genes in the center of the 11p15 imprinted domain escape genomic imprintingM P Lee, S Brandenburg, G M Landes, et al.

Human Molecular Genetics|April 10, 1999

The RNA-binding properties of SMN: deletion analysis of the zebrafish orthologue defines domains conserved in evolutionS Bertrandy, P Burlet, O Clermont, et al.

Human Molecular Genetics|April 10, 1999

Formation of polyglutamine inclusions in non-CNS tissueK Sathasivam, C Hobbs, M Turmaine, et al.

Human Molecular Genetics|April 10, 1999

Mismatch repair gene defects contribute to the genetic basis of double primary cancers of the colorectum and endometriumA L Millar, T Pal, L Madlensky, et al.

Human Molecular Genetics|April 10, 1999

Adrenoleukodystrophy-related protein can compensate functionally for adrenoleukodystrophy protein deficiency (X-ALD): implications for therapyA Netik, S Forss-Petter, A Holzinger, et al.

Human Molecular Genetics|April 10, 1999

Alterations in the CSB gene in three Italian patients with the severe form of Cockayne syndrome (CS) but without clinical photosensitivityS Colella, T Nardo, D Mallery, et al.

Pageof 1,196