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Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
May 4, 2022
The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources
Marina T DiStefano, Scott Goehringer, Lawrence Babb, et al.
Human Mutation
|
February 18, 2022
The RD-Connect Genome-Phenome Analysis Platform: Accelerating diagnosis, research, and gene discovery for rare diseases
Steven Laurie, Davide Piscia, Leslie Matalonga, et al.
Advances in Experimental Medicine and Biology
|
December 8, 2017
Improved Diagnosis and Care for Rare Diseases through Implementation of Precision Public Health Framework
Gareth Baynam, Faye Bowman, Karla Lister, et al.
Nucleic Acids Research
|
December 1, 2016
The Human Phenotype Ontology in 2017
Sebastian Köhler, Nicole A Vasilevsky, Mark Engelstad, et al.
Nucleic Acids Research
|
November 27, 2018
Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources
Sebastian Köhler, Leigh Carmody, Nicole Vasilevsky, et al.
Nucleic Acids Research
|
November 12, 2023
The Human Phenotype Ontology in 2024: phenotypes around the world
Michael A Gargano, Nicolas Matentzoglu, Ben Coleman, et al.
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Search research articles
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Showing results (41-50 of 46) with videos related to
Sort By:
Page
of 5
You have reached the last page of results.
This site can display upto 46 results.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
May 4, 2022
The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources
Marina T DiStefano, Scott Goehringer, Lawrence Babb, et al.
Human Mutation
|
February 18, 2022
The RD-Connect Genome-Phenome Analysis Platform: Accelerating diagnosis, research, and gene discovery for rare diseases
Steven Laurie, Davide Piscia, Leslie Matalonga, et al.
Advances in Experimental Medicine and Biology
|
December 8, 2017
Improved Diagnosis and Care for Rare Diseases through Implementation of Precision Public Health Framework
Gareth Baynam, Faye Bowman, Karla Lister, et al.
Nucleic Acids Research
|
December 1, 2016
The Human Phenotype Ontology in 2017
Sebastian Köhler, Nicole A Vasilevsky, Mark Engelstad, et al.
Nucleic Acids Research
|
November 27, 2018
Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources
Sebastian Köhler, Leigh Carmody, Nicole Vasilevsky, et al.
Nucleic Acids Research
|
November 12, 2023
The Human Phenotype Ontology in 2024: phenotypes around the world
Michael A Gargano, Nicolas Matentzoglu, Ben Coleman, et al.
Page
of 5