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Ana Rath

Showing results (1-10 of 46) with videos related to

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Orphanet Journal of Rare Diseases|April 19, 2015
Rare diseases in ICD11: making rare diseases visible in health information systems through appropriate codingSégolène Aymé, Bertrand Bellet, Ana Rath
Studies in Health Technology and Informatics|July 1, 2025
Extending the Patient Summary for Rare Disease and Rare Cancers in the EHDSAnnalisa Trama, Ana Rath, Catherine Chronaki, et al.
European Journal of Human Genetics : EJHG|December 2, 2020
Reply to E. Vicente et alAna Rath, Deborah M Lambert, Annie Olry, et al.
Human Mutation|May 11, 2012
Ontological phenotype standards for neurogeneticsSebastian Köhler, Sandra C Doelken, Ana Rath, et al.
Human Mutation|March 17, 2012
Representation of rare diseases in health information systems: the Orphanet approach to serve a wide range of end usersAna Rath, Annie Olry, Ferdinand Dhombres, et al.
Archives of Medical Research|June 11, 2026
Rare disease nomenclature and coding: challenges, systems, and policies in the global contextAshray Vohora, Sylvie Maiella, Caterina Lucano, et al.
Plos One|January 19, 2017
Clinical Practice Guidelines for Rare Diseases: The Orphanet DatabaseSonia Pavan, Kathrin Rommel, María Elena Mateo Marquina, et al.
Orphanet Journal of Rare Diseases|August 17, 2019
Correction to: An ontological foundation for ocular phenotypes and rare eye diseasesPanagiotis I Sergouniotis, Emmanuel Maxime, Dorothée Leroux, et al.
Orphanet Journal of Rare Diseases|January 11, 2019
An ontological foundation for ocular phenotypes and rare eye diseasesPanagiotis I Sergouniotis, Emmanuel Maxime, Dorothée Leroux, et al.
Orphanet Journal of Rare Diseases|July 8, 2025
Revised orphanet nomenclature and classification for spina bifida and other spinal dysraphisms (SBoD)Ferdinand Dhombres, Timothée de Saint-Denis, Dominic Thompson, et al.
Pageof 5

Showing results (1-10 of 46) with videos related to

Sort By:
Pageof 5
Orphanet Journal of Rare Diseases|April 19, 2015
Rare diseases in ICD11: making rare diseases visible in health information systems through appropriate codingSégolène Aymé, Bertrand Bellet, Ana Rath
Studies in Health Technology and Informatics|July 1, 2025
Extending the Patient Summary for Rare Disease and Rare Cancers in the EHDSAnnalisa Trama, Ana Rath, Catherine Chronaki, et al.
European Journal of Human Genetics : EJHG|December 2, 2020
Reply to E. Vicente et alAna Rath, Deborah M Lambert, Annie Olry, et al.
Human Mutation|May 11, 2012
Ontological phenotype standards for neurogeneticsSebastian Köhler, Sandra C Doelken, Ana Rath, et al.
Human Mutation|March 17, 2012
Representation of rare diseases in health information systems: the Orphanet approach to serve a wide range of end usersAna Rath, Annie Olry, Ferdinand Dhombres, et al.
Archives of Medical Research|June 11, 2026
Rare disease nomenclature and coding: challenges, systems, and policies in the global contextAshray Vohora, Sylvie Maiella, Caterina Lucano, et al.
Plos One|January 19, 2017
Clinical Practice Guidelines for Rare Diseases: The Orphanet DatabaseSonia Pavan, Kathrin Rommel, María Elena Mateo Marquina, et al.
Orphanet Journal of Rare Diseases|August 17, 2019
Correction to: An ontological foundation for ocular phenotypes and rare eye diseasesPanagiotis I Sergouniotis, Emmanuel Maxime, Dorothée Leroux, et al.
Orphanet Journal of Rare Diseases|January 11, 2019
An ontological foundation for ocular phenotypes and rare eye diseasesPanagiotis I Sergouniotis, Emmanuel Maxime, Dorothée Leroux, et al.
Orphanet Journal of Rare Diseases|July 8, 2025
Revised orphanet nomenclature and classification for spina bifida and other spinal dysraphisms (SBoD)Ferdinand Dhombres, Timothée de Saint-Denis, Dominic Thompson, et al.
Pageof 5