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Showing results (691-700 of 915) with videos related to

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Genes, Brain, and Behavior|November 10, 2018
Rare copy number variation in extremely impulsively violent malesJan Vevera, Mehdi Zarrei, Hana Hartmannová, et al.
Europace : European Pacing, Arrhythmias, and Cardiac Electrophysiology : Journal of the Working Groups on Cardiac Pacing, Arrhythmias, and Cardiac Cellular Electrophysiology of the European Society of Cardiology|March 8, 2021
Enrichment of loss-of-function and copy number variants in ventricular cardiomyopathy genes in 'lone' atrial fibrillationJulieta Lazarte, Zachary W Laksman, Jian Wang, et al.
Cytogenetic and Genome Research|March 17, 2009
Molecular and clinical characterization of de novo and familial cases with microduplication 3q29: guidelines for copy number variation case reportingS Goobie, J Knijnenburg, D Fitzpatrick, et al.
Nature Genetics|September 6, 2003
Mutations in NHLRC1 cause progressive myoclonus epilepsyElayne M Chan, Edwin J Young, Leonarda Ianzano, et al.
Journal of Neurodevelopmental Disorders|May 17, 2014
CHD2 haploinsufficiency is associated with developmental delay, intellectual disability, epilepsy and neurobehavioural problemsSébastien Chénier, Grace Yoon, Bob Argiropoulos, et al.
Acta Neuropathologica Communications|July 25, 2015
Complete loss of the DNAJB6 G/F domain and novel missense mutations cause distal-onset DNAJB6 myopathyAlessandra Ruggieri, Francesco Brancati, Simona Zanotti, et al.
NPJ Genomic Medicine|March 28, 2018
Improving imputation in disease-relevant regions: lessons from cystic fibrosisNaim Panjwani, Bowei Xiao, Lizhen Xu, et al.
American Journal of Medical Genetics. Part A|June 23, 2021
Genome sequencing for detection of pathogenic deep intronic variation: A clinical case report illustrating opportunities and challengesSusan Walker, Sylvia Lamoureux, Tayyaba Khan, et al.
American Journal of Human Genetics|January 6, 2018
A Comprehensive Workflow for Read Depth-Based Identification of Copy-Number Variation from Whole-Genome Sequence DataBrett Trost, Susan Walker, Zhuozhi Wang, et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics|December 16, 2006
Sequence variants within exon 1 of MECP2 occur in females with mental retardationChris G Harvey, Sailesh D Menon, Beata Stachowiak, et al.
Pageof 92

Showing results (691-700 of 915) with videos related to

Sort By:
Pageof 92
Genes, Brain, and Behavior|November 10, 2018
Rare copy number variation in extremely impulsively violent malesJan Vevera, Mehdi Zarrei, Hana Hartmannová, et al.
Europace : European Pacing, Arrhythmias, and Cardiac Electrophysiology : Journal of the Working Groups on Cardiac Pacing, Arrhythmias, and Cardiac Cellular Electrophysiology of the European Society of Cardiology|March 8, 2021
Enrichment of loss-of-function and copy number variants in ventricular cardiomyopathy genes in 'lone' atrial fibrillationJulieta Lazarte, Zachary W Laksman, Jian Wang, et al.
Cytogenetic and Genome Research|March 17, 2009
Molecular and clinical characterization of de novo and familial cases with microduplication 3q29: guidelines for copy number variation case reportingS Goobie, J Knijnenburg, D Fitzpatrick, et al.
Nature Genetics|September 6, 2003
Mutations in NHLRC1 cause progressive myoclonus epilepsyElayne M Chan, Edwin J Young, Leonarda Ianzano, et al.
Journal of Neurodevelopmental Disorders|May 17, 2014
CHD2 haploinsufficiency is associated with developmental delay, intellectual disability, epilepsy and neurobehavioural problemsSébastien Chénier, Grace Yoon, Bob Argiropoulos, et al.
Acta Neuropathologica Communications|July 25, 2015
Complete loss of the DNAJB6 G/F domain and novel missense mutations cause distal-onset DNAJB6 myopathyAlessandra Ruggieri, Francesco Brancati, Simona Zanotti, et al.
NPJ Genomic Medicine|March 28, 2018
Improving imputation in disease-relevant regions: lessons from cystic fibrosisNaim Panjwani, Bowei Xiao, Lizhen Xu, et al.
American Journal of Medical Genetics. Part A|June 23, 2021
Genome sequencing for detection of pathogenic deep intronic variation: A clinical case report illustrating opportunities and challengesSusan Walker, Sylvia Lamoureux, Tayyaba Khan, et al.
American Journal of Human Genetics|January 6, 2018
A Comprehensive Workflow for Read Depth-Based Identification of Copy-Number Variation from Whole-Genome Sequence DataBrett Trost, Susan Walker, Zhuozhi Wang, et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics|December 16, 2006
Sequence variants within exon 1 of MECP2 occur in females with mental retardationChris G Harvey, Sailesh D Menon, Beata Stachowiak, et al.
Pageof 92