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Helen Cox

Showing results (191-200 of 208) with videos related to

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Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 6, 2025
Utility of genome sequencing and group-enrichment to support splice variant interpretation in Marfan syndromeSusan Walker, David J Bunyan, Huw B Thomas, et al.
American Journal of Human Genetics|February 12, 2026
A cardiovascular, craniofacial, and neurodevelopmental disorder caused by loss-of-function variants in the eIF3 complex component genes EIF3A and EIF3BEsra Erkut, Cherith Somerville, Marci L B Schwartz, et al.
Nature Genetics|January 20, 2015
Evolutionary history and global spread of the Mycobacterium tuberculosis Beijing lineageMatthias Merker, Camille Blin, Stefano Mona, et al.
American Journal of Human Genetics|October 1, 2025
A cardiovascular, craniofacial, and neurodevelopmental disorder caused by loss-of-function variants in the eIF3 complex component genes EIF3A and EIF3BEsra Erkut, Cherith Somerville, Marci L B Schwartz, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 18, 2020
GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorderChristine Shieh, Natasha Jones, Brigitte Vanle, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 13, 2020
Correction: GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorderChristine Shieh, Natasha Jones, Brigitte Vanle, et al.
The Lancet. Respiratory Medicine|March 30, 2018
Comparison of different treatments for isoniazid-resistant tuberculosis: an individual patient data meta-analysisFederica Fregonese, Shama D Ahuja, Onno W Akkerman, et al.
Nature Genetics|February 14, 2017
Mutations in DONSON disrupt replication fork stability and cause microcephalic dwarfismJohn J Reynolds, Louise S Bicknell, Paula Carroll, et al.
Lancet (London, England)|March 25, 2019
Building a tuberculosis-free world: The Lancet Commission on tuberculosisMichael J A Reid, Nimalan Arinaminpathy, Amy Bloom, et al.
Journal of Medical Genetics|August 16, 2014
Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicismMorad Ansari, Gemma Poke, Quentin Ferry, et al.
Pageof 21

Showing results (191-200 of 208) with videos related to

Sort By:
Pageof 21
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 6, 2025
Utility of genome sequencing and group-enrichment to support splice variant interpretation in Marfan syndromeSusan Walker, David J Bunyan, Huw B Thomas, et al.
American Journal of Human Genetics|February 12, 2026
A cardiovascular, craniofacial, and neurodevelopmental disorder caused by loss-of-function variants in the eIF3 complex component genes EIF3A and EIF3BEsra Erkut, Cherith Somerville, Marci L B Schwartz, et al.
Nature Genetics|January 20, 2015
Evolutionary history and global spread of the Mycobacterium tuberculosis Beijing lineageMatthias Merker, Camille Blin, Stefano Mona, et al.
American Journal of Human Genetics|October 1, 2025
A cardiovascular, craniofacial, and neurodevelopmental disorder caused by loss-of-function variants in the eIF3 complex component genes EIF3A and EIF3BEsra Erkut, Cherith Somerville, Marci L B Schwartz, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 18, 2020
GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorderChristine Shieh, Natasha Jones, Brigitte Vanle, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 13, 2020
Correction: GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorderChristine Shieh, Natasha Jones, Brigitte Vanle, et al.
The Lancet. Respiratory Medicine|March 30, 2018
Comparison of different treatments for isoniazid-resistant tuberculosis: an individual patient data meta-analysisFederica Fregonese, Shama D Ahuja, Onno W Akkerman, et al.
Nature Genetics|February 14, 2017
Mutations in DONSON disrupt replication fork stability and cause microcephalic dwarfismJohn J Reynolds, Louise S Bicknell, Paula Carroll, et al.
Lancet (London, England)|March 25, 2019
Building a tuberculosis-free world: The Lancet Commission on tuberculosisMichael J A Reid, Nimalan Arinaminpathy, Amy Bloom, et al.
Journal of Medical Genetics|August 16, 2014
Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicismMorad Ansari, Gemma Poke, Quentin Ferry, et al.
Pageof 21