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Sean Hill

Showing results (81-90 of 105) with videos related to

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Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 28, 2020
Regulation of human cerebral cortical development by EXOC7 and EXOC8, components of the exocyst complex, and roles in neural progenitor cell proliferation and survivalMichael E Coulter, Damir Musaev, Ellen M DeGennaro, et al.
American Journal of Human Genetics|September 11, 2012
Exome sequencing and functional validation in zebrafish identify GTDC2 mutations as a cause of Walker-Warburg syndromeM Chiara Manzini, Dimira E Tambunan, R Sean Hill, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 15, 2021
Variants in ADD1 cause intellectual disability, corpus callosum dysgenesis, and ventriculomegaly in humansCai Qi, Irena Feng, Ana Rita Costa, et al.
Science (New York, N.Y.)|July 16, 2008
Identifying autism loci and genes by tracing recent shared ancestryEric M Morrow, Seung-Yun Yoo, Steven W Flavell, et al.
Human Molecular Genetics|February 7, 2014
METTL23, a transcriptional partner of GABPA, is essential for human cognitionRachel E Reiff, Bassam R Ali, Byron Baron, et al.
Annals of Neurology|March 6, 2014
SLC25A22 is a novel gene for migrating partial seizures in infancyAnnapurna Poduri, Erin L Heinzen, Vida Chitsazzadeh, et al.
Nature Neuroscience|July 16, 2020
Publisher Correction: Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorderElaine T Lim, Mohammed Uddin, Silvia De Rubeis, et al.
Nature Neuroscience|July 18, 2017
Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorderElaine T Lim, Mohammed Uddin, Silvia De Rubeis, et al.
Proceedings of the National Academy of Sciences of the United States of America|September 8, 2016
Mutations in mitochondrial enzyme GPT2 cause metabolic dysfunction and neurological disease with developmental and progressive featuresQing Ouyang, Tojo Nakayama, Ozan Baytas, et al.
Neuron|August 28, 2018
Sodium Channel SCN3A (Na<sub>V</sub>1.3) Regulation of Human Cerebral Cortical Folding and Oral Motor DevelopmentRichard S Smith, Connor J Kenny, Vijay Ganesh, et al.
Pageof 11

Showing results (81-90 of 105) with videos related to

Sort By:
Pageof 11
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 28, 2020
Regulation of human cerebral cortical development by EXOC7 and EXOC8, components of the exocyst complex, and roles in neural progenitor cell proliferation and survivalMichael E Coulter, Damir Musaev, Ellen M DeGennaro, et al.
American Journal of Human Genetics|September 11, 2012
Exome sequencing and functional validation in zebrafish identify GTDC2 mutations as a cause of Walker-Warburg syndromeM Chiara Manzini, Dimira E Tambunan, R Sean Hill, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 15, 2021
Variants in ADD1 cause intellectual disability, corpus callosum dysgenesis, and ventriculomegaly in humansCai Qi, Irena Feng, Ana Rita Costa, et al.
Science (New York, N.Y.)|July 16, 2008
Identifying autism loci and genes by tracing recent shared ancestryEric M Morrow, Seung-Yun Yoo, Steven W Flavell, et al.
Human Molecular Genetics|February 7, 2014
METTL23, a transcriptional partner of GABPA, is essential for human cognitionRachel E Reiff, Bassam R Ali, Byron Baron, et al.
Annals of Neurology|March 6, 2014
SLC25A22 is a novel gene for migrating partial seizures in infancyAnnapurna Poduri, Erin L Heinzen, Vida Chitsazzadeh, et al.
Nature Neuroscience|July 16, 2020
Publisher Correction: Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorderElaine T Lim, Mohammed Uddin, Silvia De Rubeis, et al.
Nature Neuroscience|July 18, 2017
Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorderElaine T Lim, Mohammed Uddin, Silvia De Rubeis, et al.
Proceedings of the National Academy of Sciences of the United States of America|September 8, 2016
Mutations in mitochondrial enzyme GPT2 cause metabolic dysfunction and neurological disease with developmental and progressive featuresQing Ouyang, Tojo Nakayama, Ozan Baytas, et al.
Neuron|August 28, 2018
Sodium Channel SCN3A (Na<sub>V</sub>1.3) Regulation of Human Cerebral Cortical Folding and Oral Motor DevelopmentRichard S Smith, Connor J Kenny, Vijay Ganesh, et al.
Pageof 11