Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Filters

Ana Rath

Showing results (11-20 of 46) with videos related to

Pageof 5
Sort By:
European Journal of Human Genetics : EJHG|September 19, 2019
Estimating cumulative point prevalence of rare diseases: analysis of the Orphanet databaseStéphanie Nguengang Wakap, Deborah M Lambert, Annie Olry, et al.
Orphanet Journal of Rare Diseases|January 27, 2024
Coding undiagnosed rare disease patients in health information systems: recommendations from the RD-CODE projectCéline Angin, Monica Mazzucato, Stefanie Weber, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 6, 2020
Phenotate: crowdsourcing phenotype annotations as exercises in undergraduate classesWillie H Chang, Pouria Mashouri, Alexander X Lozano, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 20, 2020
Correction: Phenotate: crowdsourcing phenotype annotations as exercises in undergraduate classesWillie H Chang, Pouria Mashouri, Alexander X Lozano, et al.
European Journal of Human Genetics : EJHG|November 5, 2023
Phenotypic similarity-based approach for variant prioritization for unsolved rare disease: a preliminary methodological reportDavid Lagorce, Emeline Lebreton, Leslie Matalonga, et al.
European Journal of Medical Genetics|February 10, 2018
Harmonising phenomics information for a better interoperability in the rare disease fieldSylvie Maiella, Annie Olry, Marc Hanauer, et al.
Trials|August 3, 2017
Barriers to the conduct of randomised clinical trials within all disease areasSnezana Djurisic, Ana Rath, Sabrina Gaber, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 23, 2016
The collective impact of rare diseases in Western Australia: an estimate using a population-based cohortCaroline E Walker, Trinity Mahede, Geoff Davis, 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 AnalysisCaterina Lucano, David Lagorce, Annie Olry, et al.
Studies in Health Technology and Informatics|September 16, 2010
CEMARA an information system for rare diseasesPaul Landais, Claude Messiaen, Ana Rath, et al.
Pageof 5

Showing results (11-20 of 46) with videos related to

Sort By:
Pageof 5
European Journal of Human Genetics : EJHG|September 19, 2019
Estimating cumulative point prevalence of rare diseases: analysis of the Orphanet databaseStéphanie Nguengang Wakap, Deborah M Lambert, Annie Olry, et al.
Orphanet Journal of Rare Diseases|January 27, 2024
Coding undiagnosed rare disease patients in health information systems: recommendations from the RD-CODE projectCéline Angin, Monica Mazzucato, Stefanie Weber, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 6, 2020
Phenotate: crowdsourcing phenotype annotations as exercises in undergraduate classesWillie H Chang, Pouria Mashouri, Alexander X Lozano, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 20, 2020
Correction: Phenotate: crowdsourcing phenotype annotations as exercises in undergraduate classesWillie H Chang, Pouria Mashouri, Alexander X Lozano, et al.
European Journal of Human Genetics : EJHG|November 5, 2023
Phenotypic similarity-based approach for variant prioritization for unsolved rare disease: a preliminary methodological reportDavid Lagorce, Emeline Lebreton, Leslie Matalonga, et al.
European Journal of Medical Genetics|February 10, 2018
Harmonising phenomics information for a better interoperability in the rare disease fieldSylvie Maiella, Annie Olry, Marc Hanauer, et al.
Trials|August 3, 2017
Barriers to the conduct of randomised clinical trials within all disease areasSnezana Djurisic, Ana Rath, Sabrina Gaber, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 23, 2016
The collective impact of rare diseases in Western Australia: an estimate using a population-based cohortCaroline E Walker, Trinity Mahede, Geoff Davis, 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 AnalysisCaterina Lucano, David Lagorce, Annie Olry, et al.
Studies in Health Technology and Informatics|September 16, 2010
CEMARA an information system for rare diseasesPaul Landais, Claude Messiaen, Ana Rath, et al.
Pageof 5