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A Corbett

Showing results (541-550 of 576) with videos related to

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Brain Communications|November 21, 2025
Novel, complex configurations of the <i>MARCHF6</i> repeat expansion associated with progressive myoclonic epilepsy and familial adult myoclonic epilepsyMark F Bennett, Mark A Corbett, Thessa Kroes, et al.
Genome Research|March 20, 2025
Optical genome mapping enables accurate testing of large repeat expansionsBart van der Sanden, Kornelia Neveling, Syukri Shukor, et al.
Human Mutation|April 13, 2021
Different types of disease-causing noncoding variants revealed by genomic and gene expression analyses in families with X-linked intellectual disabilityMichael J Field, Raman Kumar, Anna Hackett, et al.
Neurology|May 26, 2021
Association of <i>SLC32A1</i> Missense Variants With Genetic Epilepsy With Febrile Seizures PlusSarah E Heron, Brigid M Regan, Rebekah V Harris, et al.
Immunity|July 23, 2013
The autoimmunity-associated gene PTPN22 potentiates toll-like receptor-driven, type 1 interferon-dependent immunityYaya Wang, Iftach Shaked, Stephanie M Stanford, et al.
Human Mutation|June 3, 2021
Integrated in silico and experimental assessment of disease relevance of PCDH19 missense variantsDuyen H Pham, Melissa R Pitman, Raman Kumar, et al.
Genes|August 26, 2023
Aicardi Syndrome Is a Genetically Heterogeneous DisorderThuong T Ha, Rosemary Burgess, Morgan Newman, et al.
American Journal of Human Genetics|January 17, 2012
PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndromeSarah E Heron, Bronwyn E Grinton, Sara Kivity, et al.
Neuropathology and Applied Neurobiology|September 8, 2020
Heterozygous CAPN3 missense variants causing autosomal-dominant calpainopathy in seven unrelated familiesL González-Mera, G Ravenscroft, M Cabrera-Serrano, et al.
Human Molecular Genetics|December 16, 2014
Homozygous mutation of STXBP5L explains an autosomal recessive infantile-onset neurodegenerative disorderRaman Kumar, Mark A Corbett, Nicholas J C Smith, et al.
Pageof 58

Showing results (541-550 of 576) with videos related to

Sort By:
Pageof 58
Brain Communications|November 21, 2025
Novel, complex configurations of the <i>MARCHF6</i> repeat expansion associated with progressive myoclonic epilepsy and familial adult myoclonic epilepsyMark F Bennett, Mark A Corbett, Thessa Kroes, et al.
Genome Research|March 20, 2025
Optical genome mapping enables accurate testing of large repeat expansionsBart van der Sanden, Kornelia Neveling, Syukri Shukor, et al.
Human Mutation|April 13, 2021
Different types of disease-causing noncoding variants revealed by genomic and gene expression analyses in families with X-linked intellectual disabilityMichael J Field, Raman Kumar, Anna Hackett, et al.
Neurology|May 26, 2021
Association of <i>SLC32A1</i> Missense Variants With Genetic Epilepsy With Febrile Seizures PlusSarah E Heron, Brigid M Regan, Rebekah V Harris, et al.
Immunity|July 23, 2013
The autoimmunity-associated gene PTPN22 potentiates toll-like receptor-driven, type 1 interferon-dependent immunityYaya Wang, Iftach Shaked, Stephanie M Stanford, et al.
Human Mutation|June 3, 2021
Integrated in silico and experimental assessment of disease relevance of PCDH19 missense variantsDuyen H Pham, Melissa R Pitman, Raman Kumar, et al.
Genes|August 26, 2023
Aicardi Syndrome Is a Genetically Heterogeneous DisorderThuong T Ha, Rosemary Burgess, Morgan Newman, et al.
American Journal of Human Genetics|January 17, 2012
PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndromeSarah E Heron, Bronwyn E Grinton, Sara Kivity, et al.
Neuropathology and Applied Neurobiology|September 8, 2020
Heterozygous CAPN3 missense variants causing autosomal-dominant calpainopathy in seven unrelated familiesL González-Mera, G Ravenscroft, M Cabrera-Serrano, et al.
Human Molecular Genetics|December 16, 2014
Homozygous mutation of STXBP5L explains an autosomal recessive infantile-onset neurodegenerative disorderRaman Kumar, Mark A Corbett, Nicholas J C Smith, et al.
Pageof 58