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A Corbett

Showing results (551-560 of 576) with videos related to

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American Journal of Human Genetics|July 31, 2012
Copy-number gains of HUWE1 due to replication- and recombination-based rearrangementsGuy Froyen, Stefanie Belet, Francisco Martinez, et al.
Nature Communications|February 8, 2024
Compromised transcription-mRNA export factor THOC2 causes R-loop accumulation, DNA damage and adverse neurodevelopmentRudrarup Bhattacharjee, Lachlan A Jolly, Mark A Corbett, et al.
Brain : a Journal of Neurology|March 2, 2013
'North Sea' progressive myoclonus epilepsy: phenotype of subjects with GOSR2 mutationLysa Boissé Lomax, Marta A Bayly, Helle Hjalgrim, et al.
Blood|February 14, 2019
PHF6 regulates hematopoietic stem and progenitor cells and its loss synergizes with expression of TLX3 to cause leukemiaHelen M McRae, Alexandra L Garnham, Yifang Hu, et al.
American Journal of Human Genetics|July 14, 2015
THOC2 Mutations Implicate mRNA-Export Pathway in X-Linked Intellectual DisabilityRaman Kumar, Mark A Corbett, Bregje W M van Bon, et al.
Ebiomedicine|November 7, 2025
Genetic diagnostic yield by MRI pattern in children with cerebral palsy: a population-based studyJesia G Berry, Ajay Taranath, Robert Goetti, et al.
NPJ Genomic Medicine|December 10, 2020
Missense variant contribution to USP9X-female syndromeLachlan A Jolly, Euan Parnell, Alison E Gardner, et al.
American Journal of Human Genetics|July 31, 2024
RNA variant assessment using transactivation and transdifferentiationEmmylou C Nicolas-Martinez, Olivia Robinson, Christian Pflueger, et al.
BJOG : an International Journal of Obstetrics and Gynaecology|March 31, 2025
Pregnancy Outcomes in Women With Primary Adrenal Insufficiency: Data From a Multicentre Cohort StudyMatthew Cauldwell, Philip J Steer, Masato Ahsan, et al.
Human Molecular Genetics|October 8, 2015
Increased STAG2 dosage defines a novel cohesinopathy with intellectual disability and behavioral problemsRaman Kumar, Mark A Corbett, Bregje W M Van Bon, et al.
Pageof 58

Showing results (551-560 of 576) with videos related to

Sort By:
Pageof 58
American Journal of Human Genetics|July 31, 2012
Copy-number gains of HUWE1 due to replication- and recombination-based rearrangementsGuy Froyen, Stefanie Belet, Francisco Martinez, et al.
Nature Communications|February 8, 2024
Compromised transcription-mRNA export factor THOC2 causes R-loop accumulation, DNA damage and adverse neurodevelopmentRudrarup Bhattacharjee, Lachlan A Jolly, Mark A Corbett, et al.
Brain : a Journal of Neurology|March 2, 2013
'North Sea' progressive myoclonus epilepsy: phenotype of subjects with GOSR2 mutationLysa Boissé Lomax, Marta A Bayly, Helle Hjalgrim, et al.
Blood|February 14, 2019
PHF6 regulates hematopoietic stem and progenitor cells and its loss synergizes with expression of TLX3 to cause leukemiaHelen M McRae, Alexandra L Garnham, Yifang Hu, et al.
American Journal of Human Genetics|July 14, 2015
THOC2 Mutations Implicate mRNA-Export Pathway in X-Linked Intellectual DisabilityRaman Kumar, Mark A Corbett, Bregje W M van Bon, et al.
Ebiomedicine|November 7, 2025
Genetic diagnostic yield by MRI pattern in children with cerebral palsy: a population-based studyJesia G Berry, Ajay Taranath, Robert Goetti, et al.
NPJ Genomic Medicine|December 10, 2020
Missense variant contribution to USP9X-female syndromeLachlan A Jolly, Euan Parnell, Alison E Gardner, et al.
American Journal of Human Genetics|July 31, 2024
RNA variant assessment using transactivation and transdifferentiationEmmylou C Nicolas-Martinez, Olivia Robinson, Christian Pflueger, et al.
BJOG : an International Journal of Obstetrics and Gynaecology|March 31, 2025
Pregnancy Outcomes in Women With Primary Adrenal Insufficiency: Data From a Multicentre Cohort StudyMatthew Cauldwell, Philip J Steer, Masato Ahsan, et al.
Human Molecular Genetics|October 8, 2015
Increased STAG2 dosage defines a novel cohesinopathy with intellectual disability and behavioral problemsRaman Kumar, Mark A Corbett, Bregje W M Van Bon, et al.
Pageof 58