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Michael E Talkowski

Showing results (71-80 of 184) with videos related to

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Human Molecular Genetics|January 10, 2015
Htt CAG repeat expansion confers pleiotropic gains of mutant huntingtin function in chromatin regulationMarta Biagioli, Francesco Ferrari, Eric M Mendenhall, et al.
Nature Communications|November 8, 2017
Mapping and phasing of structural variation in patient genomes using nanopore sequencingMircea Cretu Stancu, Markus J van Roosmalen, Ivo Renkens, et al.
Medrxiv : the Preprint Server for Health Sciences|November 28, 2024
Loss of <i>CFHR5</i> function reduces the risk for age-related macular degenerationMary Pat Reeve, Stephanie Loomis, Eija Nissilä, et al.
Cell Stem Cell|December 18, 2014
Efficient ablation of genes in human hematopoietic stem and effector cells using CRISPR/Cas9Pankaj K Mandal, Leonardo M R Ferreira, Ryan Collins, et al.
American Journal of Human Genetics|March 26, 2019
ELP1 Splicing Correction Reverses Proprioceptive Sensory Loss in Familial DysautonomiaElisabetta Morini, Dadi Gao, Connor M Montgomery, et al.
Nature Genetics|October 13, 2020
Evidence for secondary-variant genetic burden and non-random distribution across biological modules in a recessive ciliopathyMaria Kousi, Onuralp Söylemez, Aysegül Ozanturk, et al.
Nucleic Acids Research|December 20, 2022
CHD8 suppression impacts on histone H3 lysine 36 trimethylation and alters RNA alternative splicingEmanuela Kerschbamer, Michele Arnoldi, Takshashila Tripathi, et al.
Science (New York, N.Y.)|January 2, 2025
Rare germline structural variants increase risk for pediatric solid tumorsRiaz Gillani, Ryan L Collins, Jett Crowdis, et al.
Human Genetics|July 20, 2011
The cell adhesion gene PVRL3 is associated with congenital ocular defectsSalil A Lachke, Anne W Higgins, Maiko Inagaki, et al.
Cell Genomics|April 21, 2023
Convergent coexpression of autism-associated genes suggests some novel risk genes may not be detectable in large-scale genetic studiesCalwing Liao, Mariana Moyses-Oliveira, Celine E F De Esch, et al.
Pageof 19

Showing results (71-80 of 184) with videos related to

Sort By:
Pageof 19
Human Molecular Genetics|January 10, 2015
Htt CAG repeat expansion confers pleiotropic gains of mutant huntingtin function in chromatin regulationMarta Biagioli, Francesco Ferrari, Eric M Mendenhall, et al.
Nature Communications|November 8, 2017
Mapping and phasing of structural variation in patient genomes using nanopore sequencingMircea Cretu Stancu, Markus J van Roosmalen, Ivo Renkens, et al.
Medrxiv : the Preprint Server for Health Sciences|November 28, 2024
Loss of <i>CFHR5</i> function reduces the risk for age-related macular degenerationMary Pat Reeve, Stephanie Loomis, Eija Nissilä, et al.
Cell Stem Cell|December 18, 2014
Efficient ablation of genes in human hematopoietic stem and effector cells using CRISPR/Cas9Pankaj K Mandal, Leonardo M R Ferreira, Ryan Collins, et al.
American Journal of Human Genetics|March 26, 2019
ELP1 Splicing Correction Reverses Proprioceptive Sensory Loss in Familial DysautonomiaElisabetta Morini, Dadi Gao, Connor M Montgomery, et al.
Nature Genetics|October 13, 2020
Evidence for secondary-variant genetic burden and non-random distribution across biological modules in a recessive ciliopathyMaria Kousi, Onuralp Söylemez, Aysegül Ozanturk, et al.
Nucleic Acids Research|December 20, 2022
CHD8 suppression impacts on histone H3 lysine 36 trimethylation and alters RNA alternative splicingEmanuela Kerschbamer, Michele Arnoldi, Takshashila Tripathi, et al.
Science (New York, N.Y.)|January 2, 2025
Rare germline structural variants increase risk for pediatric solid tumorsRiaz Gillani, Ryan L Collins, Jett Crowdis, et al.
Human Genetics|July 20, 2011
The cell adhesion gene PVRL3 is associated with congenital ocular defectsSalil A Lachke, Anne W Higgins, Maiko Inagaki, et al.
Cell Genomics|April 21, 2023
Convergent coexpression of autism-associated genes suggests some novel risk genes may not be detectable in large-scale genetic studiesCalwing Liao, Mariana Moyses-Oliveira, Celine E F De Esch, et al.
Pageof 19