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European Journal of Medical Genetics
|
February 10, 2018
Harmonising phenomics information for a better interoperability in the rare disease field
Sylvie Maiella, Annie Olry, Marc Hanauer, et al.
JMIR Medical Informatics
|
July 8, 2026
The Orphanet Nomenclature and Classification of Rare Diseases for Improved Patient Recognition and Data Interoperability: Qualitative and Quantitative Analysis
Caterina Lucano, David Lagorce, Annie Olry, et al.
American Journal of Human Genetics
|
May 6, 2017
International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases
Kym M Boycott, Ana Rath, Jessica X Chong, et al.
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.
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.
Page
of 2
Search research articles
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Showing results (11-20 of 17) with videos related to
Sort By:
Page
of 2
You have reached the last page of results.
This site can display upto 17 results.
European Journal of Medical Genetics
|
February 10, 2018
Harmonising phenomics information for a better interoperability in the rare disease field
Sylvie Maiella, Annie Olry, Marc Hanauer, et al.
JMIR Medical Informatics
|
July 8, 2026
The Orphanet Nomenclature and Classification of Rare Diseases for Improved Patient Recognition and Data Interoperability: Qualitative and Quantitative Analysis
Caterina Lucano, David Lagorce, Annie Olry, et al.
American Journal of Human Genetics
|
May 6, 2017
International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases
Kym M Boycott, Ana Rath, Jessica X Chong, et al.
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.
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.
Page
of 2