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Mark A Corbett

Showing results (31-40 of 68) with videos related to

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Cell Reports|March 19, 2020
Chromatin-Binding Protein PHF6 Regulates Activity-Dependent Transcriptional Networks to Promote Hunger ResponseLinhua Gan, Jingjing Sun, Shuo Yang, et al.
Neurology|October 14, 2016
Dominant KCNA2 mutation causes episodic ataxia and pharmacoresponsive epilepsyMark A Corbett, Susannah T Bellows, Melody Li, et al.
European Journal of Human Genetics : EJHG|March 24, 2020
Familial adult myoclonic epilepsy type 1 SAMD12 TTTCA repeat expansion arose 17,000 years ago and is present in Sri Lankan and Indian familiesMark F Bennett, Karen L Oliver, Brigid M Regan, et al.
American Journal of Human Genetics|September 25, 2012
A noncoding, regulatory mutation implicates HCFC1 in nonsyndromic intellectual disabilityLingli Huang, Lachlan A Jolly, Saffron Willis-Owen, et al.
Journal of Medical Genetics|January 24, 2015
A novel X-linked trichothiodystrophy associated with a nonsense mutation in RNF113AMark A Corbett, Tracy Dudding-Byth, Patricia A Crock, et al.
Nature|November 17, 2017
A ubiquitin-dependent signalling axis specific for ALKBH-mediated DNA dealkylation repairJoshua R Brickner, Jennifer M Soll, Patrick M Lombardi, et al.
Ebiomedicine|March 15, 2026
Testing the performance of polygenic scores for multiple traits to explain cerebral palsy in two independent cohortsJodi T Thomas, Alexander S F Berry, Matthew T Oetjens, et al.
American Journal of Human Genetics|May 10, 2011
A mutation in the Golgi Qb-SNARE gene GOSR2 causes progressive myoclonus epilepsy with early ataxiaMark A Corbett, Michael Schwake, Melanie Bahlo, et al.
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.
Pageof 7

Showing results (31-40 of 68) with videos related to

Sort By:
Pageof 7
Cell Reports|March 19, 2020
Chromatin-Binding Protein PHF6 Regulates Activity-Dependent Transcriptional Networks to Promote Hunger ResponseLinhua Gan, Jingjing Sun, Shuo Yang, et al.
Neurology|October 14, 2016
Dominant KCNA2 mutation causes episodic ataxia and pharmacoresponsive epilepsyMark A Corbett, Susannah T Bellows, Melody Li, et al.
European Journal of Human Genetics : EJHG|March 24, 2020
Familial adult myoclonic epilepsy type 1 SAMD12 TTTCA repeat expansion arose 17,000 years ago and is present in Sri Lankan and Indian familiesMark F Bennett, Karen L Oliver, Brigid M Regan, et al.
American Journal of Human Genetics|September 25, 2012
A noncoding, regulatory mutation implicates HCFC1 in nonsyndromic intellectual disabilityLingli Huang, Lachlan A Jolly, Saffron Willis-Owen, et al.
Journal of Medical Genetics|January 24, 2015
A novel X-linked trichothiodystrophy associated with a nonsense mutation in RNF113AMark A Corbett, Tracy Dudding-Byth, Patricia A Crock, et al.
Nature|November 17, 2017
A ubiquitin-dependent signalling axis specific for ALKBH-mediated DNA dealkylation repairJoshua R Brickner, Jennifer M Soll, Patrick M Lombardi, et al.
Ebiomedicine|March 15, 2026
Testing the performance of polygenic scores for multiple traits to explain cerebral palsy in two independent cohortsJodi T Thomas, Alexander S F Berry, Matthew T Oetjens, et al.
American Journal of Human Genetics|May 10, 2011
A mutation in the Golgi Qb-SNARE gene GOSR2 causes progressive myoclonus epilepsy with early ataxiaMark A Corbett, Michael Schwake, Melanie Bahlo, et al.
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.
Pageof 7