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Richard Redon

Showing results (101-110 of 131) with videos related to

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American Journal of Human Genetics|April 24, 2021
Missense variants in DPYSL5 cause a neurodevelopmental disorder with corpus callosum agenesis and cerebellar abnormalitiesMédéric Jeanne, Hélène Demory, Aubin Moutal, et al.
Nature Communications|April 20, 2024
TAD boundary deletion causes PITX2-related cardiac electrical and structural defectsManon Baudic, Hiroshige Murata, Fernanda M Bosada, et al.
Nature|November 24, 2006
Global variation in copy number in the human genomeRichard Redon, Shumpei Ishikawa, Karen R Fitch, et al.
Circulation|October 11, 2024
A Rare Noncoding Enhancer Variant in <i>SCN5A</i> Contributes to the High Prevalence of Brugada Syndrome in ThailandRoddy Walsh, John Mauleekoonphairoj, Isabella Mengarelli, et al.
Circulation. Genomic and Precision Medicine|November 9, 2020
<i>SCN5A</i> Mutation Type and a Genetic Risk Score Associate Variably With Brugada Syndrome Phenotype in <i>SCN5A</i> FamiliesYanushi D Wijeyeratne, Michael W Tanck, Yuka Mizusawa, et al.
BMJ Open|October 23, 2025
PERIGENOMED-CLINICS 1-the first study on feasibility, acceptability and psychosocial impact of PERIGENOMED: a pilot project aimed at providing initial concrete evidence on the relevance of panel-based genome sequencing for newborn screening (NBS) in FranceCamille Level, Christel Thauvin-Robinet, Christine Binquet, et al.
Blood|June 13, 2018
Identification of a new <i>VHL</i> exon and complex splicing alterations in familial erythrocytosis or von Hippel-Lindau diseaseMarion Lenglet, Florence Robriquet, Klaus Schwarz, et al.
Human Molecular Genetics|May 23, 2022
SEMA6B variants cause intellectual disability and alter dendritic spine density and axon guidanceAmélie Cordovado, Martina Schaettin, Médéric Jeanne, et al.
Nature Communications|August 7, 2024
Human genetic structure in Northwest France provides new insights into West European historical demographyIsabel Alves, Joanna Giemza, Michael G B Blum, et al.
The New England Journal of Medicine|April 30, 2025
Identification of Hepatic-like EPO as a Cause of PolycythemiaLaurent Martin, Darko Maric, Salam Idriss, et al.
Pageof 14

Showing results (101-110 of 131) with videos related to

Sort By:
Pageof 14
American Journal of Human Genetics|April 24, 2021
Missense variants in DPYSL5 cause a neurodevelopmental disorder with corpus callosum agenesis and cerebellar abnormalitiesMédéric Jeanne, Hélène Demory, Aubin Moutal, et al.
Nature Communications|April 20, 2024
TAD boundary deletion causes PITX2-related cardiac electrical and structural defectsManon Baudic, Hiroshige Murata, Fernanda M Bosada, et al.
Nature|November 24, 2006
Global variation in copy number in the human genomeRichard Redon, Shumpei Ishikawa, Karen R Fitch, et al.
Circulation|October 11, 2024
A Rare Noncoding Enhancer Variant in <i>SCN5A</i> Contributes to the High Prevalence of Brugada Syndrome in ThailandRoddy Walsh, John Mauleekoonphairoj, Isabella Mengarelli, et al.
Circulation. Genomic and Precision Medicine|November 9, 2020
<i>SCN5A</i> Mutation Type and a Genetic Risk Score Associate Variably With Brugada Syndrome Phenotype in <i>SCN5A</i> FamiliesYanushi D Wijeyeratne, Michael W Tanck, Yuka Mizusawa, et al.
BMJ Open|October 23, 2025
PERIGENOMED-CLINICS 1-the first study on feasibility, acceptability and psychosocial impact of PERIGENOMED: a pilot project aimed at providing initial concrete evidence on the relevance of panel-based genome sequencing for newborn screening (NBS) in FranceCamille Level, Christel Thauvin-Robinet, Christine Binquet, et al.
Blood|June 13, 2018
Identification of a new <i>VHL</i> exon and complex splicing alterations in familial erythrocytosis or von Hippel-Lindau diseaseMarion Lenglet, Florence Robriquet, Klaus Schwarz, et al.
Human Molecular Genetics|May 23, 2022
SEMA6B variants cause intellectual disability and alter dendritic spine density and axon guidanceAmélie Cordovado, Martina Schaettin, Médéric Jeanne, et al.
Nature Communications|August 7, 2024
Human genetic structure in Northwest France provides new insights into West European historical demographyIsabel Alves, Joanna Giemza, Michael G B Blum, et al.
The New England Journal of Medicine|April 30, 2025
Identification of Hepatic-like EPO as a Cause of PolycythemiaLaurent Martin, Darko Maric, Salam Idriss, et al.
Pageof 14