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Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
December 6, 2018
ClinPhen extracts and prioritizes patient phenotypes directly from medical records to expedite genetic disease diagnosis
Cole A Deisseroth, Johannes Birgmeier, Ethan E Bodle, et al.
Brain : a Journal of Neurology
|
October 4, 2017
Mutations of AKT3 are associated with a wide spectrum of developmental disorders including extreme megalencephaly
Diana Alcantara, Andrew E Timms, Karen Gripp, et al.
Nature Medicine
|
June 5, 2019
Identification of rare-disease genes using blood transcriptome sequencing and large control cohorts
Laure Frésard, Craig Smail, Nicole M Ferraro, et al.
Annals of the Rheumatic Diseases
|
September 29, 2019
Emergent high fatality lung disease in systemic juvenile arthritis
Vivian E Saper, Guangbo Chen, Gail H Deutsch, et al.
Page
of 8
Search research articles
Search
Showing results (71-80 of 74) with videos related to
Sort By:
Page
of 8
You have reached the last page of results.
This site can display upto 74 results.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
December 6, 2018
ClinPhen extracts and prioritizes patient phenotypes directly from medical records to expedite genetic disease diagnosis
Cole A Deisseroth, Johannes Birgmeier, Ethan E Bodle, et al.
Brain : a Journal of Neurology
|
October 4, 2017
Mutations of AKT3 are associated with a wide spectrum of developmental disorders including extreme megalencephaly
Diana Alcantara, Andrew E Timms, Karen Gripp, et al.
Nature Medicine
|
June 5, 2019
Identification of rare-disease genes using blood transcriptome sequencing and large control cohorts
Laure Frésard, Craig Smail, Nicole M Ferraro, et al.
Annals of the Rheumatic Diseases
|
September 29, 2019
Emergent high fatality lung disease in systemic juvenile arthritis
Vivian E Saper, Guangbo Chen, Gail H Deutsch, et al.
Page
of 8