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Science Translational Medicine
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September 17, 2010
Disruption at the PTCHD1 Locus on Xp22.11 in Autism spectrum disorder and intellectual disability
Abdul Noor, Annabel Whibley, Christian R Marshall, et al.
NPJ Genomic Medicine
|
October 12, 2019
A large data resource of genomic copy number variation across neurodevelopmental disorders
Mehdi Zarrei, Christie L Burton, Worrawat Engchuan, et al.
NPJ Genomic Medicine
|
June 2, 2017
Whole Genome Sequencing Expands Diagnostic Utility and Improves Clinical Management in Pediatric Medicine
Dimitri J Stavropoulos, Daniele Merico, Rebekah Jobling, et al.
Nature Genetics
|
February 3, 2015
Combined hereditary and somatic mutations of replication error repair genes result in rapid onset of ultra-hypermutated cancers
Adam Shlien, Brittany B Campbell, Richard de Borja, et al.
Nature Genetics
|
March 30, 2024
Comprehensive whole-genome sequence analyses provide insights into the genomic architecture of cerebral palsy
Darcy L Fehlings, Mehdi Zarrei, Worrawat Engchuan, et al.
American Journal of Human Genetics
|
January 22, 2013
Exonic deletions in AUTS2 cause a syndromic form of intellectual disability and suggest a critical role for the C terminus
Gea Beunders, Els Voorhoeve, Christelle Golzio, et al.
Journal of Medical Genetics
|
December 18, 2013
A genome-wide copy number association study of osteoporotic fractures points to the 6p25.1 locus
Ling Oei, Yi-Hsiang Hsu, Unnur Styrkarsdottir, et al.
Nature
|
May 13, 2026
An X-linked long non-coding RNA, PTCHD1-AS, and the core features of autism
Clarrisa A Bradley, Sangyoon Y Ko, Meng Tian, et al.
Nature
|
September 11, 2009
Prepublication data sharing
, Ewan Birney, Thomas J Hudson, et al.
Nature Neuroscience
|
March 7, 2017
Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder
Ryan K C Yuen, Daniele Merico, Matt Bookman, et al.
Page
of 92
Search research articles
Search
Showing results (871-880 of 915) with videos related to
Sort By:
Page
of 92
Science Translational Medicine
|
September 17, 2010
Disruption at the PTCHD1 Locus on Xp22.11 in Autism spectrum disorder and intellectual disability
Abdul Noor, Annabel Whibley, Christian R Marshall, et al.
NPJ Genomic Medicine
|
October 12, 2019
A large data resource of genomic copy number variation across neurodevelopmental disorders
Mehdi Zarrei, Christie L Burton, Worrawat Engchuan, et al.
NPJ Genomic Medicine
|
June 2, 2017
Whole Genome Sequencing Expands Diagnostic Utility and Improves Clinical Management in Pediatric Medicine
Dimitri J Stavropoulos, Daniele Merico, Rebekah Jobling, et al.
Nature Genetics
|
February 3, 2015
Combined hereditary and somatic mutations of replication error repair genes result in rapid onset of ultra-hypermutated cancers
Adam Shlien, Brittany B Campbell, Richard de Borja, et al.
Nature Genetics
|
March 30, 2024
Comprehensive whole-genome sequence analyses provide insights into the genomic architecture of cerebral palsy
Darcy L Fehlings, Mehdi Zarrei, Worrawat Engchuan, et al.
American Journal of Human Genetics
|
January 22, 2013
Exonic deletions in AUTS2 cause a syndromic form of intellectual disability and suggest a critical role for the C terminus
Gea Beunders, Els Voorhoeve, Christelle Golzio, et al.
Journal of Medical Genetics
|
December 18, 2013
A genome-wide copy number association study of osteoporotic fractures points to the 6p25.1 locus
Ling Oei, Yi-Hsiang Hsu, Unnur Styrkarsdottir, et al.
Nature
|
May 13, 2026
An X-linked long non-coding RNA, PTCHD1-AS, and the core features of autism
Clarrisa A Bradley, Sangyoon Y Ko, Meng Tian, et al.
Nature
|
September 11, 2009
Prepublication data sharing
, Ewan Birney, Thomas J Hudson, et al.
Nature Neuroscience
|
March 7, 2017
Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder
Ryan K C Yuen, Daniele Merico, Matt Bookman, et al.
Page
of 92