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Richard Redon

Showing results (121-130 of 131) with videos related to

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Molecular Psychiatry|August 16, 2018
Whole exome sequencing study identifies novel rare and common Alzheimer's-Associated variants involved in immune response and transcriptional regulationJoshua C Bis, Xueqiu Jian, Brian W Kunkle, et al.
Molecular Neurodegeneration|December 2, 2025
Domain mapping of disease mutations reveals pathogenic SORL1 variants in Alzheimer's diseaseOlav M Andersen, Matthijs W J de Waal, Giulia Monti, et al.
American Journal of Human Genetics|November 4, 2017
De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual DisabilitySébastien Küry, Geeske M van Woerden, Thomas Besnard, et al.
Nature Genetics|November 21, 2022
Exome sequencing identifies rare damaging variants in ATP8B4 and ABCA1 as risk factors for Alzheimer's diseaseHenne Holstege, Marc Hulsman, Camille Charbonnier, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 7, 2020
Enhancing rare variant interpretation in inherited arrhythmias through quantitative analysis of consortium disease cohorts and population controlsRoddy Walsh, Najim Lahrouchi, Rafik Tadros, et al.
American Journal of Human Genetics|March 5, 2019
Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual DisabilityBenjamin Cogné, Sophie Ehresmann, Eliane Beauregard-Lacroix, et al.
Science Advances|December 3, 2020
Histone H3.3 beyond cancer: Germline mutations in <i>Histone 3 Family 3A and 3B</i> cause a previously unidentified neurodegenerative disorder in 46 patientsLaura Bryant, Dong Li, Samuel G Cox, et al.
Nature Genetics|February 25, 2022
Genome-wide association analyses identify new Brugada syndrome risk loci and highlight a new mechanism of sodium channel regulation in disease susceptibilityJulien Barc, Rafik Tadros, Charlotte Glinge, et al.
Science (New York, N.Y.)|January 19, 2023
Heritable defects in telomere and mitotic function selectively predispose to sarcomasMandy L Ballinger, Swetansu Pattnaik, Piyushkumar A Mundra, et al.
Nature Genetics|April 27, 2022
Author Correction: Genome-wide association analyses identify new Brugada syndrome risk loci and highlight a new mechanism of sodium channel regulation in disease susceptibilityJulien Barc, Rafik Tadros, Charlotte Glinge, et al.
Pageof 14

Showing results (121-130 of 131) with videos related to

Sort By:
Pageof 14
Molecular Psychiatry|August 16, 2018
Whole exome sequencing study identifies novel rare and common Alzheimer's-Associated variants involved in immune response and transcriptional regulationJoshua C Bis, Xueqiu Jian, Brian W Kunkle, et al.
Molecular Neurodegeneration|December 2, 2025
Domain mapping of disease mutations reveals pathogenic SORL1 variants in Alzheimer's diseaseOlav M Andersen, Matthijs W J de Waal, Giulia Monti, et al.
American Journal of Human Genetics|November 4, 2017
De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual DisabilitySébastien Küry, Geeske M van Woerden, Thomas Besnard, et al.
Nature Genetics|November 21, 2022
Exome sequencing identifies rare damaging variants in ATP8B4 and ABCA1 as risk factors for Alzheimer's diseaseHenne Holstege, Marc Hulsman, Camille Charbonnier, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 7, 2020
Enhancing rare variant interpretation in inherited arrhythmias through quantitative analysis of consortium disease cohorts and population controlsRoddy Walsh, Najim Lahrouchi, Rafik Tadros, et al.
American Journal of Human Genetics|March 5, 2019
Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual DisabilityBenjamin Cogné, Sophie Ehresmann, Eliane Beauregard-Lacroix, et al.
Science Advances|December 3, 2020
Histone H3.3 beyond cancer: Germline mutations in <i>Histone 3 Family 3A and 3B</i> cause a previously unidentified neurodegenerative disorder in 46 patientsLaura Bryant, Dong Li, Samuel G Cox, et al.
Nature Genetics|February 25, 2022
Genome-wide association analyses identify new Brugada syndrome risk loci and highlight a new mechanism of sodium channel regulation in disease susceptibilityJulien Barc, Rafik Tadros, Charlotte Glinge, et al.
Science (New York, N.Y.)|January 19, 2023
Heritable defects in telomere and mitotic function selectively predispose to sarcomasMandy L Ballinger, Swetansu Pattnaik, Piyushkumar A Mundra, et al.
Nature Genetics|April 27, 2022
Author Correction: Genome-wide association analyses identify new Brugada syndrome risk loci and highlight a new mechanism of sodium channel regulation in disease susceptibilityJulien Barc, Rafik Tadros, Charlotte Glinge, et al.
Pageof 14