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Mark I Rees

Showing results (51-60 of 82) with videos related to

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American Journal of Human Genetics|April 8, 2014
De novo mutations in the beta-tubulin gene TUBB2A cause simplified gyral patterning and infantile-onset epilepsyThomas D Cushion, Alex R Paciorkowski, Daniela T Pilz, et al.
American Heart Journal|January 29, 2019
Development of a cardiac inherited disease service and clinical registry: A 15-year perspectiveNikki J Earle, Jackie Crawford, Ian Hayes, et al.
Human Molecular Genetics|May 15, 2010
TUBA1A mutations cause wide spectrum lissencephaly (smooth brain) and suggest that multiple neuronal migration pathways converge on alpha tubulinsRavinesh A Kumar, Daniela T Pilz, Timothy D Babatz, et al.
Epilepsia|August 29, 2023
Genetic influences on epilepsy outcomes: A whole-exome sequencing and health care records data linkage studyBeata Fonferko-Shadrach, Arron S Lacey, Huw Strafford, et al.
Neurobiology of Disease|May 22, 2003
Molecular investigation of TBP allele length: a SCA17 cellular model and population studySuzanne J Reid, Mark I Rees, Willeke M C van Roon-Mom, et al.
Brain : a Journal of Neurology|January 31, 2013
Overlapping cortical malformations and mutations in TUBB2B and TUBA1AThomas D Cushion, William B Dobyns, Jonathan G L Mullins, et al.
Human Molecular Genetics|July 2, 2015
Recognizable cerebellar dysplasia associated with mutations in multiple tubulin genesRenske Oegema, Thomas D Cushion, Ian G Phelps, et al.
Circulation. Arrhythmia and Electrophysiology|October 8, 2009
Biophysical properties of 9 KCNQ1 mutations associated with long-QT syndromeTao Yang, Seo-Kyung Chung, Wei Zhang, et al.
Neurobiology of Disease|December 15, 2012
Novel missense mutations in the glycine receptor β subunit gene (GLRB) in startle diseaseVictoria M James, Anna Bode, Seo-Kyung Chung, et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience|June 25, 2004
The GDP-GTP exchange factor collybistin: an essential determinant of neuronal gephyrin clusteringKirsten Harvey, Ian C Duguid, Melissa J Alldred, et al.
Pageof 9

Showing results (51-60 of 82) with videos related to

Sort By:
Pageof 9
American Journal of Human Genetics|April 8, 2014
De novo mutations in the beta-tubulin gene TUBB2A cause simplified gyral patterning and infantile-onset epilepsyThomas D Cushion, Alex R Paciorkowski, Daniela T Pilz, et al.
American Heart Journal|January 29, 2019
Development of a cardiac inherited disease service and clinical registry: A 15-year perspectiveNikki J Earle, Jackie Crawford, Ian Hayes, et al.
Human Molecular Genetics|May 15, 2010
TUBA1A mutations cause wide spectrum lissencephaly (smooth brain) and suggest that multiple neuronal migration pathways converge on alpha tubulinsRavinesh A Kumar, Daniela T Pilz, Timothy D Babatz, et al.
Epilepsia|August 29, 2023
Genetic influences on epilepsy outcomes: A whole-exome sequencing and health care records data linkage studyBeata Fonferko-Shadrach, Arron S Lacey, Huw Strafford, et al.
Neurobiology of Disease|May 22, 2003
Molecular investigation of TBP allele length: a SCA17 cellular model and population studySuzanne J Reid, Mark I Rees, Willeke M C van Roon-Mom, et al.
Brain : a Journal of Neurology|January 31, 2013
Overlapping cortical malformations and mutations in TUBB2B and TUBA1AThomas D Cushion, William B Dobyns, Jonathan G L Mullins, et al.
Human Molecular Genetics|July 2, 2015
Recognizable cerebellar dysplasia associated with mutations in multiple tubulin genesRenske Oegema, Thomas D Cushion, Ian G Phelps, et al.
Circulation. Arrhythmia and Electrophysiology|October 8, 2009
Biophysical properties of 9 KCNQ1 mutations associated with long-QT syndromeTao Yang, Seo-Kyung Chung, Wei Zhang, et al.
Neurobiology of Disease|December 15, 2012
Novel missense mutations in the glycine receptor β subunit gene (GLRB) in startle diseaseVictoria M James, Anna Bode, Seo-Kyung Chung, et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience|June 25, 2004
The GDP-GTP exchange factor collybistin: an essential determinant of neuronal gephyrin clusteringKirsten Harvey, Ian C Duguid, Melissa J Alldred, et al.
Pageof 9