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Science (New York, N.Y.)
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December 20, 2014
RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease
Hui Y Xiong, Babak Alipanahi, Leo J Lee, et al.
Journal of Neurodevelopmental Disorders
|
October 26, 2016
Uncovering obsessive-compulsive disorder risk genes in a pediatric cohort by high-resolution analysis of copy number variation
Matthew J Gazzellone, Mehdi Zarrei, Christie L Burton, et al.
Nature Communications
|
November 3, 2015
Compound heterozygous mutations in the noncoding RNU4ATAC cause Roifman Syndrome by disrupting minor intron splicing
Daniele Merico, Maian Roifman, Ulrich Braunschweig, et al.
Stem Cell Reports
|
February 14, 2019
Complete Disruption of Autism-Susceptibility Genes by Gene Editing Predominantly Reduces Functional Connectivity of Isogenic Human Neurons
Eric Deneault, Sean H White, Deivid C Rodrigues, et al.
Stem Cell Reports
|
November 6, 2018
Complete Disruption of Autism-Susceptibility Genes by Gene Editing Predominantly Reduces Functional Connectivity of Isogenic Human Neurons
Eric Deneault, Sean H White, Deivid C Rodrigues, et al.
Frontiers in Genetics
|
October 28, 2020
Genes and Pathways Implicated in Tetralogy of Fallot Revealed by Ultra-Rare Variant Burden Analysis in 231 Genome Sequences
Roozbeh Manshaei, Daniele Merico, Miriam S Reuter, et al.
Human Genetics
|
November 30, 2014
Using extended pedigrees to identify novel autism spectrum disorder (ASD) candidate genes
Marc Woodbury-Smith, Andrew D Paterson, Bhooma Thiruvahindrapduram, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
August 4, 2017
De novo and rare inherited copy-number variations in the hemiplegic form of cerebral palsy
Mehdi Zarrei, Darcy L Fehlings, Karizma Mawjee, et al.
Nature Communications
|
October 30, 2022
Genome-wide rare variant score associates with morphological subtypes of autism spectrum disorder
Ada J S Chan, Worrawat Engchuan, Miriam S Reuter, et al.
Nature Medicine
|
January 27, 2015
Whole-genome sequencing of quartet families with autism spectrum disorder
Ryan K C Yuen, Bhooma Thiruvahindrapuram, Daniele Merico, et al.
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Search research articles
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Showing results (61-70 of 94) with videos related to
Sort By:
Page
of 10
Science (New York, N.Y.)
|
December 20, 2014
RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease
Hui Y Xiong, Babak Alipanahi, Leo J Lee, et al.
Journal of Neurodevelopmental Disorders
|
October 26, 2016
Uncovering obsessive-compulsive disorder risk genes in a pediatric cohort by high-resolution analysis of copy number variation
Matthew J Gazzellone, Mehdi Zarrei, Christie L Burton, et al.
Nature Communications
|
November 3, 2015
Compound heterozygous mutations in the noncoding RNU4ATAC cause Roifman Syndrome by disrupting minor intron splicing
Daniele Merico, Maian Roifman, Ulrich Braunschweig, et al.
Stem Cell Reports
|
February 14, 2019
Complete Disruption of Autism-Susceptibility Genes by Gene Editing Predominantly Reduces Functional Connectivity of Isogenic Human Neurons
Eric Deneault, Sean H White, Deivid C Rodrigues, et al.
Stem Cell Reports
|
November 6, 2018
Complete Disruption of Autism-Susceptibility Genes by Gene Editing Predominantly Reduces Functional Connectivity of Isogenic Human Neurons
Eric Deneault, Sean H White, Deivid C Rodrigues, et al.
Frontiers in Genetics
|
October 28, 2020
Genes and Pathways Implicated in Tetralogy of Fallot Revealed by Ultra-Rare Variant Burden Analysis in 231 Genome Sequences
Roozbeh Manshaei, Daniele Merico, Miriam S Reuter, et al.
Human Genetics
|
November 30, 2014
Using extended pedigrees to identify novel autism spectrum disorder (ASD) candidate genes
Marc Woodbury-Smith, Andrew D Paterson, Bhooma Thiruvahindrapduram, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
August 4, 2017
De novo and rare inherited copy-number variations in the hemiplegic form of cerebral palsy
Mehdi Zarrei, Darcy L Fehlings, Karizma Mawjee, et al.
Nature Communications
|
October 30, 2022
Genome-wide rare variant score associates with morphological subtypes of autism spectrum disorder
Ada J S Chan, Worrawat Engchuan, Miriam S Reuter, et al.
Nature Medicine
|
January 27, 2015
Whole-genome sequencing of quartet families with autism spectrum disorder
Ryan K C Yuen, Bhooma Thiruvahindrapuram, Daniele Merico, et al.
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of 10