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Gregory M Cooper

Showing results (161-170 of 195) with videos related to

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American Journal of Human Genetics|December 12, 2018
Aberrant Inclusion of a Poison Exon Causes Dravet Syndrome and Related SCN1A-Associated Genetic EpilepsiesGemma L Carvill, Krysta L Engel, Aishwarya Ramamurthy, et al.
Genome Medicine|May 31, 2017
Genomic diagnosis for children with intellectual disability and/or developmental delayKevin M Bowling, Michelle L Thompson, Michelle D Amaral, et al.
Epilepsia|July 10, 2020
Defining the phenotype of FHF1 developmental and epileptic encephalopathyMarina Trivisano, Alessandro Ferretti, Elizabeth Bebin, et al.
Nature Genetics|February 19, 2008
A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizuresAndrew J Sharp, Heather C Mefford, Kelly Li, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 17, 2017
Characterizing reduced coverage regions through comparison of exome and genome sequencing data across 10 centersRashesh V Sanghvi, Christian J Buhay, Bradford C Powell, et al.
Human Genetics|May 10, 2018
De novo mutations in MED13, a component of the Mediator complex, are associated with a novel neurodevelopmental disorderLot Snijders Blok, Susan M Hiatt, Kevin M Bowling, et al.
Plos Genetics|December 1, 2018
De novo mutations in the GTP/GDP-binding region of RALA, a RAS-like small GTPase, cause intellectual disability and developmental delaySusan M Hiatt, Matthew B Neu, Ryne C Ramaker, et al.
American Journal of Human Genetics|December 27, 2016
Mutations in EBF3 Disturb Transcriptional Profiles and Cause Intellectual Disability, Ataxia, and Facial DysmorphismFrederike Leonie Harms, Katta M Girisha, Andrew A Hardigan, et al.
Cell|March 25, 2017
Bedside Back to Bench: Building Bridges between Basic and Clinical Genomic ResearchTeri A Manolio, Douglas M Fowler, Lea M Starita, et al.
European Journal of Human Genetics : EJHG|January 22, 2019
Spatially clustering de novo variants in CYFIP2, encoding the cytoplasmic FMRP interacting protein 2, cause intellectual disability and seizuresMarkus Zweier, Anaïs Begemann, Kirsty McWalter, et al.
Pageof 20

Showing results (161-170 of 195) with videos related to

Sort By:
Pageof 20
American Journal of Human Genetics|December 12, 2018
Aberrant Inclusion of a Poison Exon Causes Dravet Syndrome and Related SCN1A-Associated Genetic EpilepsiesGemma L Carvill, Krysta L Engel, Aishwarya Ramamurthy, et al.
Genome Medicine|May 31, 2017
Genomic diagnosis for children with intellectual disability and/or developmental delayKevin M Bowling, Michelle L Thompson, Michelle D Amaral, et al.
Epilepsia|July 10, 2020
Defining the phenotype of FHF1 developmental and epileptic encephalopathyMarina Trivisano, Alessandro Ferretti, Elizabeth Bebin, et al.
Nature Genetics|February 19, 2008
A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizuresAndrew J Sharp, Heather C Mefford, Kelly Li, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 17, 2017
Characterizing reduced coverage regions through comparison of exome and genome sequencing data across 10 centersRashesh V Sanghvi, Christian J Buhay, Bradford C Powell, et al.
Human Genetics|May 10, 2018
De novo mutations in MED13, a component of the Mediator complex, are associated with a novel neurodevelopmental disorderLot Snijders Blok, Susan M Hiatt, Kevin M Bowling, et al.
Plos Genetics|December 1, 2018
De novo mutations in the GTP/GDP-binding region of RALA, a RAS-like small GTPase, cause intellectual disability and developmental delaySusan M Hiatt, Matthew B Neu, Ryne C Ramaker, et al.
American Journal of Human Genetics|December 27, 2016
Mutations in EBF3 Disturb Transcriptional Profiles and Cause Intellectual Disability, Ataxia, and Facial DysmorphismFrederike Leonie Harms, Katta M Girisha, Andrew A Hardigan, et al.
Cell|March 25, 2017
Bedside Back to Bench: Building Bridges between Basic and Clinical Genomic ResearchTeri A Manolio, Douglas M Fowler, Lea M Starita, et al.
European Journal of Human Genetics : EJHG|January 22, 2019
Spatially clustering de novo variants in CYFIP2, encoding the cytoplasmic FMRP interacting protein 2, cause intellectual disability and seizuresMarkus Zweier, Anaïs Begemann, Kirsty McWalter, et al.
Pageof 20