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Plos Biology
|
July 18, 2024
Single-fly genome assemblies fill major phylogenomic gaps across the Drosophilidae Tree of Life
Bernard Y Kim, Hannah R Gellert, Samuel H Church, et al.
American Journal of Human Genetics
|
March 26, 2024
De novo missense variants in exon 9 of SEPHS1 cause a neurodevelopmental condition with developmental delay, poor growth, hypotonia, and dysmorphic features
Sureni V Mullegama, Kaitlyn A Kiernan, Erin Torti, et al.
Rare (Amsterdam, Netherlands)
|
October 18, 2024
Dual diagnosis of <i>UQCRFS1</i>-related mitochondrial complex III deficiency and recessive <i>GJA8</i>-related cataracts
Elizabeth E Blue, Samuel J Huang, Alyna Khan, et al.
American Journal of Human Genetics
|
July 3, 2021
Targeted long-read sequencing identifies missing disease-causing variation
Danny E Miller, Arvis Sulovari, Tianyun Wang, et al.
Biorxiv : the Preprint Server for Biology
|
June 4, 2026
Building an Interoperable Rare Disease Multi-omic Resource: The GREGoR Data Model and Dataset
Benjamin D Heavner, Marsha M Wheeler, Jesse D Bengtsson, 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.
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.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
June 20, 2026
RNU4ATAC-opathy: Clinical, molecular and transcriptomic insights from a large cohort
Dena R Matalon, Angela L Duker, Taylor M Arriaga, et al.
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Search research articles
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Showing results (101-110 of 112) with videos related to
Sort By:
Page
of 12
Plos Biology
|
July 18, 2024
Single-fly genome assemblies fill major phylogenomic gaps across the Drosophilidae Tree of Life
Bernard Y Kim, Hannah R Gellert, Samuel H Church, et al.
American Journal of Human Genetics
|
March 26, 2024
De novo missense variants in exon 9 of SEPHS1 cause a neurodevelopmental condition with developmental delay, poor growth, hypotonia, and dysmorphic features
Sureni V Mullegama, Kaitlyn A Kiernan, Erin Torti, et al.
Rare (Amsterdam, Netherlands)
|
October 18, 2024
Dual diagnosis of <i>UQCRFS1</i>-related mitochondrial complex III deficiency and recessive <i>GJA8</i>-related cataracts
Elizabeth E Blue, Samuel J Huang, Alyna Khan, et al.
American Journal of Human Genetics
|
July 3, 2021
Targeted long-read sequencing identifies missing disease-causing variation
Danny E Miller, Arvis Sulovari, Tianyun Wang, et al.
Biorxiv : the Preprint Server for Biology
|
June 4, 2026
Building an Interoperable Rare Disease Multi-omic Resource: The GREGoR Data Model and Dataset
Benjamin D Heavner, Marsha M Wheeler, Jesse D Bengtsson, 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.
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.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
June 20, 2026
RNU4ATAC-opathy: Clinical, molecular and transcriptomic insights from a large cohort
Dena R Matalon, Angela L Duker, Taylor M Arriaga, et al.
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of 12