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The New England Journal of Medicine
|
June 20, 2019
Reanalysis of Clinical Exome Sequencing Data
Pengfei Liu, Linyan Meng, Elizabeth A Normand, et al.
Medrxiv : the Preprint Server for Health Sciences
|
March 18, 2024
Nanopore sequencing of 1000 Genomes Project samples to build a comprehensive catalog of human genetic variation
Jonas A Gustafson, Sophia B Gibson, Nikhita Damaraju, et al.
Genome Research
|
October 2, 2024
High-coverage nanopore sequencing of samples from the 1000 Genomes Project to build a comprehensive catalog of human genetic variation
Jonas A Gustafson, Sophia B Gibson, Nikhita Damaraju, et al.
Medrxiv : the Preprint Server for Health Sciences
|
October 24, 2023
Diagnostic Utility of Genome-wide DNA Methylation Analysis in Genetically Unsolved Developmental and Epileptic Encephalopathies and Refinement of a CHD2 Episignature
Christy W LaFlamme, Cassandra Rastin, Soham Sengupta, et al.
Genome Medicine
|
March 27, 2019
Correction to: De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome
Francesco Vetrini, Shane McKee, Jill A Rosenfeld, et al.
American Journal of Human Genetics
|
January 31, 2017
De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder
Sébastien Küry, Thomas Besnard, Frédéric Ebstein, et al.
American Journal of Human Genetics
|
April 8, 2017
De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder
Sébastien Küry, Thomas Besnard, Frédéric Ebstein, et al.
Genome Medicine
|
March 2, 2019
De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome
Francesco Vetrini, Shane McKee, Jill A Rosenfeld, et al.
Nature Communications
|
August 6, 2024
Diagnostic utility of DNA methylation analysis in genetically unsolved pediatric epilepsies and CHD2 episignature refinement
Christy W LaFlamme, Cassandra Rastin, Soham Sengupta, et al.
Drug and Alcohol Dependence
|
July 20, 2025
Effects of the Communities That HEAL intervention on initiation, retention, and linkage to medications for opioid use disorder (MOUD): A cluster randomized wait-list controlled trial
Jennifer L Brown, Marc R Larochelle, Laura C Fanucchi, et al.
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Search research articles
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Showing results (721-730 of 737) with videos related to
Sort By:
Page
of 74
The New England Journal of Medicine
|
June 20, 2019
Reanalysis of Clinical Exome Sequencing Data
Pengfei Liu, Linyan Meng, Elizabeth A Normand, et al.
Medrxiv : the Preprint Server for Health Sciences
|
March 18, 2024
Nanopore sequencing of 1000 Genomes Project samples to build a comprehensive catalog of human genetic variation
Jonas A Gustafson, Sophia B Gibson, Nikhita Damaraju, et al.
Genome Research
|
October 2, 2024
High-coverage nanopore sequencing of samples from the 1000 Genomes Project to build a comprehensive catalog of human genetic variation
Jonas A Gustafson, Sophia B Gibson, Nikhita Damaraju, et al.
Medrxiv : the Preprint Server for Health Sciences
|
October 24, 2023
Diagnostic Utility of Genome-wide DNA Methylation Analysis in Genetically Unsolved Developmental and Epileptic Encephalopathies and Refinement of a CHD2 Episignature
Christy W LaFlamme, Cassandra Rastin, Soham Sengupta, et al.
Genome Medicine
|
March 27, 2019
Correction to: De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome
Francesco Vetrini, Shane McKee, Jill A Rosenfeld, et al.
American Journal of Human Genetics
|
January 31, 2017
De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder
Sébastien Küry, Thomas Besnard, Frédéric Ebstein, et al.
American Journal of Human Genetics
|
April 8, 2017
De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder
Sébastien Küry, Thomas Besnard, Frédéric Ebstein, et al.
Genome Medicine
|
March 2, 2019
De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome
Francesco Vetrini, Shane McKee, Jill A Rosenfeld, et al.
Nature Communications
|
August 6, 2024
Diagnostic utility of DNA methylation analysis in genetically unsolved pediatric epilepsies and CHD2 episignature refinement
Christy W LaFlamme, Cassandra Rastin, Soham Sengupta, et al.
Drug and Alcohol Dependence
|
July 20, 2025
Effects of the Communities That HEAL intervention on initiation, retention, and linkage to medications for opioid use disorder (MOUD): A cluster randomized wait-list controlled trial
Jennifer L Brown, Marc R Larochelle, Laura C Fanucchi, et al.
Page
of 74