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R Sean Hill

Showing results (31-40 of 39) with videos related to

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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.
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.
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.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 3, 2021
A recurrent, homozygous EMC10 frameshift variant is associated with a syndrome of developmental delay with variable seizures and dysmorphic featuresDiane D Shao, Rachel Straussberg, Hind Ahmed, et al.
Developmental Cell|October 13, 2022
Loss of non-motor kinesin KIF26A causes congenital brain malformations via dysregulated neuronal migration and axonal growth as well as apoptosisXuyu Qian, Ellen M DeGennaro, Maya Talukdar, et al.
Genome Research|June 21, 2017
Integrated genome and transcriptome sequencing identifies a noncoding mutation in the genome replication factor <i>DONSON</i> as the cause of microcephaly-micromelia syndromeGilad D Evrony, Dwight R Cordero, Jun Shen, et al.
Neuron|January 29, 2013
Using whole-exome sequencing to identify inherited causes of autismTimothy W Yu, Maria H Chahrour, Michael E Coulter, et al.
Nature|November 4, 2014
Synaptic, transcriptional and chromatin genes disrupted in autismSilvia De Rubeis, Xin He, Arthur P Goldberg, et al.
Pageof 4

Showing results (31-40 of 39) with videos related to

Sort By:
Pageof 4
You have reached the last page of results.This site can display upto 39 results.
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.
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.
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.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 3, 2021
A recurrent, homozygous EMC10 frameshift variant is associated with a syndrome of developmental delay with variable seizures and dysmorphic featuresDiane D Shao, Rachel Straussberg, Hind Ahmed, et al.
Developmental Cell|October 13, 2022
Loss of non-motor kinesin KIF26A causes congenital brain malformations via dysregulated neuronal migration and axonal growth as well as apoptosisXuyu Qian, Ellen M DeGennaro, Maya Talukdar, et al.
Genome Research|June 21, 2017
Integrated genome and transcriptome sequencing identifies a noncoding mutation in the genome replication factor <i>DONSON</i> as the cause of microcephaly-micromelia syndromeGilad D Evrony, Dwight R Cordero, Jun Shen, et al.
Neuron|January 29, 2013
Using whole-exome sequencing to identify inherited causes of autismTimothy W Yu, Maria H Chahrour, Michael E Coulter, et al.
Nature|November 4, 2014
Synaptic, transcriptional and chromatin genes disrupted in autismSilvia De Rubeis, Xin He, Arthur P Goldberg, et al.
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