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Nature Genetics
|
July 19, 2011
Exome sequencing identifies NBEAL2 as the causative gene for gray platelet syndrome
Cornelis A Albers, Ana Cvejic, Rémi Favier, et al.
Nature Genetics
|
November 3, 2019
PanelApp crowdsources expert knowledge to establish consensus diagnostic gene panels
Antonio Rueda Martin, Eleanor Williams, Rebecca E Foulger, et al.
The Lancet. Neurology
|
February 19, 2022
Whole genome sequencing for the diagnosis of neurological repeat expansion disorders in the UK: a retrospective diagnostic accuracy and prospective clinical validation study
Kristina Ibañez, James Polke, R Tanner Hagelstrom, et al.
BMJ (Clinical Research Ed.)
|
April 26, 2018
The 100 000 Genomes Project: bringing whole genome sequencing to the NHS
Clare Turnbull, Richard H Scott, Ellen Thomas, et al.
Blood
|
February 18, 2009
A novel variant on chromosome 7q22.3 associated with mean platelet volume, counts, and function
Nicole Soranzo, Augusto Rendon, Christian Gieger, et al.
Nature Medicine
|
January 10, 2024
Insights for precision oncology from the integration of genomic and clinical data of 13,880 tumors from the 100,000 Genomes Cancer Programme
Alona Sosinsky, John Ambrose, William Cross, et al.
American Journal of Human Genetics
|
July 22, 2025
The evolution of health data ecosystems: An international survey
Jordan P Lerner-Ellis, E Magda Price, Shazia Subhani, et al.
Plos Genetics
|
December 7, 2011
Integrating genome-wide genetic variations and monocyte expression data reveals trans-regulated gene modules in humans
Maxime Rotival, Tanja Zeller, Philipp S Wild, et al.
Blood
|
February 21, 2009
A HaemAtlas: characterizing gene expression in differentiated human blood cells
Nicholas A Watkins, Arief Gusnanto, Bernard de Bono, et al.
Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology
|
October 31, 2024
Large-Scale Pharmacogenomics Analysis of Patients With Cancer Within the 100,000 Genomes Project Combining Whole-Genome Sequencing and Medical Records to Inform Clinical Practice
Ivone U S Leong, Claudia P Cabrera, Valentina Cipriani, et al.
Page
of 6
Search research articles
Search
Showing results (21-30 of 56) with videos related to
Sort By:
Page
of 6
Nature Genetics
|
July 19, 2011
Exome sequencing identifies NBEAL2 as the causative gene for gray platelet syndrome
Cornelis A Albers, Ana Cvejic, Rémi Favier, et al.
Nature Genetics
|
November 3, 2019
PanelApp crowdsources expert knowledge to establish consensus diagnostic gene panels
Antonio Rueda Martin, Eleanor Williams, Rebecca E Foulger, et al.
The Lancet. Neurology
|
February 19, 2022
Whole genome sequencing for the diagnosis of neurological repeat expansion disorders in the UK: a retrospective diagnostic accuracy and prospective clinical validation study
Kristina Ibañez, James Polke, R Tanner Hagelstrom, et al.
BMJ (Clinical Research Ed.)
|
April 26, 2018
The 100 000 Genomes Project: bringing whole genome sequencing to the NHS
Clare Turnbull, Richard H Scott, Ellen Thomas, et al.
Blood
|
February 18, 2009
A novel variant on chromosome 7q22.3 associated with mean platelet volume, counts, and function
Nicole Soranzo, Augusto Rendon, Christian Gieger, et al.
Nature Medicine
|
January 10, 2024
Insights for precision oncology from the integration of genomic and clinical data of 13,880 tumors from the 100,000 Genomes Cancer Programme
Alona Sosinsky, John Ambrose, William Cross, et al.
American Journal of Human Genetics
|
July 22, 2025
The evolution of health data ecosystems: An international survey
Jordan P Lerner-Ellis, E Magda Price, Shazia Subhani, et al.
Plos Genetics
|
December 7, 2011
Integrating genome-wide genetic variations and monocyte expression data reveals trans-regulated gene modules in humans
Maxime Rotival, Tanja Zeller, Philipp S Wild, et al.
Blood
|
February 21, 2009
A HaemAtlas: characterizing gene expression in differentiated human blood cells
Nicholas A Watkins, Arief Gusnanto, Bernard de Bono, et al.
Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology
|
October 31, 2024
Large-Scale Pharmacogenomics Analysis of Patients With Cancer Within the 100,000 Genomes Project Combining Whole-Genome Sequencing and Medical Records to Inform Clinical Practice
Ivone U S Leong, Claudia P Cabrera, Valentina Cipriani, et al.
Page
of 6