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Raissa Relator

Showing results (21-30 of 41) with videos related to

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Frontiers in Cell and Developmental Biology|November 17, 2022
OMIXCARE: OMICS technologies solved about 33% of the patients with heterogeneous rare neuro-developmental disorders and negative exome sequencing results and identified 13% additional candidate variantsEstelle Colin, Yannis Duffourd, Emilie Tisserant, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 22, 2024
Diagnostic utility and reporting recommendations for clinical DNA methylation episignature testing in genetically undiagnosed rare diseasesJennifer Kerkhof, Cassandra Rastin, Michael A Levy, et al.
International Journal of Molecular Sciences|November 26, 2022
Episignature Mapping of <i>TRIP12</i> Provides Functional Insight into Clark-Baraitser SyndromeLiselot van der Laan, Kathleen Rooney, Mariëlle Alders, et al.
HGG Advances|April 4, 2024
DNA methylation episignature and comparative epigenomic profiling for Pitt-Hopkins syndrome caused by TCF4 variantsLiselot van der Laan, Peter Lauffer, Kathleen Rooney, et al.
European Journal of Human Genetics : EJHG|October 18, 2024
Epigenomic and phenotypic characterization of DEGCAGS syndromeKarim Karimi, Denisa Weis, Ingvild Aukrust, et al.
Translational Psychiatry|October 1, 2022
The phenotypic spectrum and genotype-phenotype correlations in 106 patients with variants in major autism gene CHD8Alexander J M Dingemans, Kim M G Truijen, Sam van de Ven, et al.
American Journal of Human Genetics|January 17, 2025
Discovery of a DNA methylation profile in individuals with Sifrim-Hitz-Weiss syndromeKarim Karimi, Yael Lichtenstein, Jack Reilly, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 2, 2024
Microduplications of ARID1A and ARID1B cause a novel clinical and epigenetic distinct BAFopathyPleuntje J van der Sluijs, Sébastien Moutton, Alexander J M Dingemans, et al.
Research Square|October 16, 2023
Pathogenic variants in SMARCA1 cause an X-linked neurodevelopmental disorder modulated by NURF complex compositionDavid Picketts, Ghayda Mirzaa, Keqin Yan, et al.
Medrxiv : the Preprint Server for Health Sciences|October 24, 2023
Diagnostic Utility of Genome-wide DNA Methylation Analysis in Genetically Unsolved Developmental and Epileptic Encephalopathies and Refinement of a CHD2 EpisignatureChristy W LaFlamme, Cassandra Rastin, Soham Sengupta, et al.
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Showing results (21-30 of 41) with videos related to

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Pageof 5
Frontiers in Cell and Developmental Biology|November 17, 2022
OMIXCARE: OMICS technologies solved about 33% of the patients with heterogeneous rare neuro-developmental disorders and negative exome sequencing results and identified 13% additional candidate variantsEstelle Colin, Yannis Duffourd, Emilie Tisserant, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 22, 2024
Diagnostic utility and reporting recommendations for clinical DNA methylation episignature testing in genetically undiagnosed rare diseasesJennifer Kerkhof, Cassandra Rastin, Michael A Levy, et al.
International Journal of Molecular Sciences|November 26, 2022
Episignature Mapping of <i>TRIP12</i> Provides Functional Insight into Clark-Baraitser SyndromeLiselot van der Laan, Kathleen Rooney, Mariëlle Alders, et al.
HGG Advances|April 4, 2024
DNA methylation episignature and comparative epigenomic profiling for Pitt-Hopkins syndrome caused by TCF4 variantsLiselot van der Laan, Peter Lauffer, Kathleen Rooney, et al.
European Journal of Human Genetics : EJHG|October 18, 2024
Epigenomic and phenotypic characterization of DEGCAGS syndromeKarim Karimi, Denisa Weis, Ingvild Aukrust, et al.
Translational Psychiatry|October 1, 2022
The phenotypic spectrum and genotype-phenotype correlations in 106 patients with variants in major autism gene CHD8Alexander J M Dingemans, Kim M G Truijen, Sam van de Ven, et al.
American Journal of Human Genetics|January 17, 2025
Discovery of a DNA methylation profile in individuals with Sifrim-Hitz-Weiss syndromeKarim Karimi, Yael Lichtenstein, Jack Reilly, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 2, 2024
Microduplications of ARID1A and ARID1B cause a novel clinical and epigenetic distinct BAFopathyPleuntje J van der Sluijs, Sébastien Moutton, Alexander J M Dingemans, et al.
Research Square|October 16, 2023
Pathogenic variants in SMARCA1 cause an X-linked neurodevelopmental disorder modulated by NURF complex compositionDavid Picketts, Ghayda Mirzaa, Keqin Yan, et al.
Medrxiv : the Preprint Server for Health Sciences|October 24, 2023
Diagnostic Utility of Genome-wide DNA Methylation Analysis in Genetically Unsolved Developmental and Epileptic Encephalopathies and Refinement of a CHD2 EpisignatureChristy W LaFlamme, Cassandra Rastin, Soham Sengupta, et al.
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