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American Journal of Human Genetics
|
June 30, 2015
The Human Phenotype Ontology: Semantic Unification of Common and Rare Disease
Tudor Groza, Sebastian Köhler, Dawid Moldenhauer, et al.
The Lancet. Global Health
|
June 14, 2024
Global health for rare diseases through primary care
Gareth Baynam, Adam L Hartman, Mary Catherine V Letinturier, et al.
Advanced Genetics (Hoboken, N.J.)
|
March 13, 2023
GA4GH Phenopackets: A Practical Introduction
Markus S Ladewig, Julius O B Jacobsen, Alex H Wagner, et al.
NPJ Genomic Medicine
|
December 11, 2020
A flexible computational pipeline for research analyses of unsolved clinical exome cases
Timo Lassmann, Richard W Francis, Alexia Weeks, et al.
Human Mutation
|
February 13, 2013
Getting ready for the Human Phenome Project: the 2012 forum of the Human Variome Project
William S Oetting, Peter N Robinson, Marc S Greenblatt, et al.
Nucleic Acids Research
|
December 1, 2016
The Monarch Initiative: an integrative data and analytic platform connecting phenotypes to genotypes across species
Christopher J Mungall, Julie A McMurry, Sebastian Köhler, et al.
Human Genomics
|
March 26, 2026
Translating multi-omics into healthcare: requisites for scalable and equitable implementation
Birute Tumiene, David R Adams, Robert Allaway, et al.
Genetics
|
August 13, 2016
Navigating the Phenotype Frontier: The Monarch Initiative
Julie A McMurry, Sebastian Köhler, Nicole L Washington, et al.
Nucleic Acids Research
|
November 9, 2022
The NHGRI-EBI GWAS Catalog: knowledgebase and deposition resource
Elliot Sollis, Abayomi Mosaku, Ala Abid, et al.
Nature Genetics
|
April 11, 2018
Plain-language medical vocabulary for precision diagnosis
Nicole A Vasilevsky, Erin D Foster, Mark E Engelstad, et al.
Page
of 8
Search research articles
Search
Showing results (51-60 of 76) with videos related to
Sort By:
Page
of 8
American Journal of Human Genetics
|
June 30, 2015
The Human Phenotype Ontology: Semantic Unification of Common and Rare Disease
Tudor Groza, Sebastian Köhler, Dawid Moldenhauer, et al.
The Lancet. Global Health
|
June 14, 2024
Global health for rare diseases through primary care
Gareth Baynam, Adam L Hartman, Mary Catherine V Letinturier, et al.
Advanced Genetics (Hoboken, N.J.)
|
March 13, 2023
GA4GH Phenopackets: A Practical Introduction
Markus S Ladewig, Julius O B Jacobsen, Alex H Wagner, et al.
NPJ Genomic Medicine
|
December 11, 2020
A flexible computational pipeline for research analyses of unsolved clinical exome cases
Timo Lassmann, Richard W Francis, Alexia Weeks, et al.
Human Mutation
|
February 13, 2013
Getting ready for the Human Phenome Project: the 2012 forum of the Human Variome Project
William S Oetting, Peter N Robinson, Marc S Greenblatt, et al.
Nucleic Acids Research
|
December 1, 2016
The Monarch Initiative: an integrative data and analytic platform connecting phenotypes to genotypes across species
Christopher J Mungall, Julie A McMurry, Sebastian Köhler, et al.
Human Genomics
|
March 26, 2026
Translating multi-omics into healthcare: requisites for scalable and equitable implementation
Birute Tumiene, David R Adams, Robert Allaway, et al.
Genetics
|
August 13, 2016
Navigating the Phenotype Frontier: The Monarch Initiative
Julie A McMurry, Sebastian Köhler, Nicole L Washington, et al.
Nucleic Acids Research
|
November 9, 2022
The NHGRI-EBI GWAS Catalog: knowledgebase and deposition resource
Elliot Sollis, Abayomi Mosaku, Ala Abid, et al.
Nature Genetics
|
April 11, 2018
Plain-language medical vocabulary for precision diagnosis
Nicole A Vasilevsky, Erin D Foster, Mark E Engelstad, et al.
Page
of 8