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Genome Biology
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April 30, 2020
ExpansionHunter Denovo: a computational method for locating known and novel repeat expansions in short-read sequencing data
Egor Dolzhenko, Mark F Bennett, Phillip A Richmond, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
December 16, 2014
A high-resolution copy-number variation resource for clinical and population genetics
Mohammed Uddin, Bhooma Thiruvahindrapuram, Susan Walker, et al.
Journal of Medical Genetics
|
January 22, 2013
Deletions in 16q24.2 are associated with autism spectrum disorder, intellectual disability and congenital renal malformation
Gregory Ryan Handrigan, David Chitayat, Anath C Lionel, 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.
Brain : a Journal of Neurology
|
March 27, 2015
PMPCA mutations cause abnormal mitochondrial protein processing in patients with non-progressive cerebellar ataxia
Rebekah K Jobling, Mirna Assoum, Oleksandr Gakh, et al.
Proceedings of the National Academy of Sciences of the United States of America
|
May 29, 2002
Disruption of a long-range cis-acting regulator for Shh causes preaxial polydactyly
Laura A Lettice, Taizo Horikoshi, Simon J H Heaney, et al.
Genome Medicine
|
April 8, 2009
Race and ancestry in biomedical research: exploring the challenges
Timothy Caulfield, Stephanie M Fullerton, Sarah E Ali-Khan, 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.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
February 11, 2020
The Cardiac Genome Clinic: implementing genome sequencing in pediatric heart disease
Miriam S Reuter, Rajiv R Chaturvedi, Eriskay Liston, et al.
Science Translational Medicine
|
August 12, 2011
Rare copy number variation discovery and cross-disorder comparisons identify risk genes for ADHD
Anath C Lionel, Jennifer Crosbie, Nicole Barbosa, et al.
Page
of 92
Search research articles
Search
Showing results (761-770 of 915) with videos related to
Sort By:
Page
of 92
Genome Biology
|
April 30, 2020
ExpansionHunter Denovo: a computational method for locating known and novel repeat expansions in short-read sequencing data
Egor Dolzhenko, Mark F Bennett, Phillip A Richmond, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
December 16, 2014
A high-resolution copy-number variation resource for clinical and population genetics
Mohammed Uddin, Bhooma Thiruvahindrapuram, Susan Walker, et al.
Journal of Medical Genetics
|
January 22, 2013
Deletions in 16q24.2 are associated with autism spectrum disorder, intellectual disability and congenital renal malformation
Gregory Ryan Handrigan, David Chitayat, Anath C Lionel, 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.
Brain : a Journal of Neurology
|
March 27, 2015
PMPCA mutations cause abnormal mitochondrial protein processing in patients with non-progressive cerebellar ataxia
Rebekah K Jobling, Mirna Assoum, Oleksandr Gakh, et al.
Proceedings of the National Academy of Sciences of the United States of America
|
May 29, 2002
Disruption of a long-range cis-acting regulator for Shh causes preaxial polydactyly
Laura A Lettice, Taizo Horikoshi, Simon J H Heaney, et al.
Genome Medicine
|
April 8, 2009
Race and ancestry in biomedical research: exploring the challenges
Timothy Caulfield, Stephanie M Fullerton, Sarah E Ali-Khan, 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.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
February 11, 2020
The Cardiac Genome Clinic: implementing genome sequencing in pediatric heart disease
Miriam S Reuter, Rajiv R Chaturvedi, Eriskay Liston, et al.
Science Translational Medicine
|
August 12, 2011
Rare copy number variation discovery and cross-disorder comparisons identify risk genes for ADHD
Anath C Lionel, Jennifer Crosbie, Nicole Barbosa, et al.
Page
of 92