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Neurology
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October 14, 2016
Dominant KCNA2 mutation causes episodic ataxia and pharmacoresponsive epilepsy
Mark A Corbett, Susannah T Bellows, Melody Li, et al.
Pain
|
February 29, 2024
A randomized-controlled pilot trial of telemedicine-delivered cognitive-behavioral therapy tailored for interstitial cystitis/bladder pain syndrome
Lindsey C McKernan, Trey McGonigle, Simon N Vandekar, 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 families
Mark 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 disability
Lingli Huang, Lachlan A Jolly, Saffron Willis-Owen, et al.
Blood
|
September 7, 2007
An orally bioavailable parthenolide analog selectively eradicates acute myelogenous leukemia stem and progenitor cells
Monica L Guzman, Randall M Rossi, Sundar Neelakantan, et al.
Journal of Medical Genetics
|
January 24, 2015
A novel X-linked trichothiodystrophy associated with a nonsense mutation in RNF113A
Mark 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 repair
Joshua R Brickner, Jennifer M Soll, Patrick M Lombardi, et al.
Molecular Psychiatry
|
December 21, 2011
Transcriptome profiling of UPF3B/NMD-deficient lymphoblastoid cells from patients with various forms of intellectual disability
L S Nguyen, L Jolly, C Shoubridge, et al.
Ebiomedicine
|
March 15, 2026
Testing the performance of polygenic scores for multiple traits to explain cerebral palsy in two independent cohorts
Jodi 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 ataxia
Mark A Corbett, Michael Schwake, Melanie Bahlo, et al.
Page
of 58
Search research articles
Search
Showing results (531-540 of 576) with videos related to
Sort By:
Page
of 58
Neurology
|
October 14, 2016
Dominant KCNA2 mutation causes episodic ataxia and pharmacoresponsive epilepsy
Mark A Corbett, Susannah T Bellows, Melody Li, et al.
Pain
|
February 29, 2024
A randomized-controlled pilot trial of telemedicine-delivered cognitive-behavioral therapy tailored for interstitial cystitis/bladder pain syndrome
Lindsey C McKernan, Trey McGonigle, Simon N Vandekar, 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 families
Mark 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 disability
Lingli Huang, Lachlan A Jolly, Saffron Willis-Owen, et al.
Blood
|
September 7, 2007
An orally bioavailable parthenolide analog selectively eradicates acute myelogenous leukemia stem and progenitor cells
Monica L Guzman, Randall M Rossi, Sundar Neelakantan, et al.
Journal of Medical Genetics
|
January 24, 2015
A novel X-linked trichothiodystrophy associated with a nonsense mutation in RNF113A
Mark 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 repair
Joshua R Brickner, Jennifer M Soll, Patrick M Lombardi, et al.
Molecular Psychiatry
|
December 21, 2011
Transcriptome profiling of UPF3B/NMD-deficient lymphoblastoid cells from patients with various forms of intellectual disability
L S Nguyen, L Jolly, C Shoubridge, et al.
Ebiomedicine
|
March 15, 2026
Testing the performance of polygenic scores for multiple traits to explain cerebral palsy in two independent cohorts
Jodi 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 ataxia
Mark A Corbett, Michael Schwake, Melanie Bahlo, et al.
Page
of 58