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

Tudor Groza

Showing results (41-50 of 76) with videos related to

Pageof 8
Sort By:
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.
Current Protocols in Human Genetics|October 19, 2017
Matchmaker ExchangeNara L M Sobreira, Harindra Arachchi, Orion J Buske, et al.
Current Protocols in Human Genetics|September 4, 2019
Encoding Clinical Data with the Human Phenotype Ontology for Computational Differential DiagnosticsSebastian Köhler, N Christine Øien, Orion J Buske, et al.
American Journal of Human Genetics|August 30, 2016
A Whole-Genome Analysis Framework for Effective Identification of Pathogenic Regulatory Variants in Mendelian DiseaseDamian Smedley, Max Schubach, Julius O B Jacobsen, et al.
Nucleic Acids Research|October 28, 2022
The International Mouse Phenotyping Consortium: comprehensive knockout phenotyping underpinning the study of human diseaseTudor Groza, Federico Lopez Gomez, Hamed Haseli Mashhadi, et al.
Nature Reviews. Drug Discovery|February 6, 2020
How many rare diseases are there?Melissa Haendel, Nicole Vasilevsky, Deepak Unni, et al.
Briefings in Bioinformatics|October 1, 2015
The digital revolution in phenotypingAnika Oellrich, Nigel Collier, Tudor Groza, et al.
Orphanet Journal of Rare Diseases|September 28, 2024
Leaving no patient behind! Expert recommendation in the use of innovative technologies for diagnosing rare diseasesClara D M van Karnebeek, Anne O'Donnell-Luria, Gareth Baynam, et al.
Plos One|May 17, 2023
Phenopacket-tools: Building and validating GA4GH PhenopacketsDaniel Danis, Julius O B Jacobsen, Alex H Wagner, et al.
The Lancet. Digital Health|January 31, 2025
Prevalence and demographics of 331 rare diseases and associated COVID-19-related mortality among 58 million individuals: a nationwide retrospective observational studyJohan H Thygesen, Huayu Zhang, Hanane Issa, et al.
Pageof 8

Showing results (41-50 of 76) with videos related to

Sort By:
Pageof 8
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.
Current Protocols in Human Genetics|October 19, 2017
Matchmaker ExchangeNara L M Sobreira, Harindra Arachchi, Orion J Buske, et al.
Current Protocols in Human Genetics|September 4, 2019
Encoding Clinical Data with the Human Phenotype Ontology for Computational Differential DiagnosticsSebastian Köhler, N Christine Øien, Orion J Buske, et al.
American Journal of Human Genetics|August 30, 2016
A Whole-Genome Analysis Framework for Effective Identification of Pathogenic Regulatory Variants in Mendelian DiseaseDamian Smedley, Max Schubach, Julius O B Jacobsen, et al.
Nucleic Acids Research|October 28, 2022
The International Mouse Phenotyping Consortium: comprehensive knockout phenotyping underpinning the study of human diseaseTudor Groza, Federico Lopez Gomez, Hamed Haseli Mashhadi, et al.
Nature Reviews. Drug Discovery|February 6, 2020
How many rare diseases are there?Melissa Haendel, Nicole Vasilevsky, Deepak Unni, et al.
Briefings in Bioinformatics|October 1, 2015
The digital revolution in phenotypingAnika Oellrich, Nigel Collier, Tudor Groza, et al.
Orphanet Journal of Rare Diseases|September 28, 2024
Leaving no patient behind! Expert recommendation in the use of innovative technologies for diagnosing rare diseasesClara D M van Karnebeek, Anne O'Donnell-Luria, Gareth Baynam, et al.
Plos One|May 17, 2023
Phenopacket-tools: Building and validating GA4GH PhenopacketsDaniel Danis, Julius O B Jacobsen, Alex H Wagner, et al.
The Lancet. Digital Health|January 31, 2025
Prevalence and demographics of 331 rare diseases and associated COVID-19-related mortality among 58 million individuals: a nationwide retrospective observational studyJohan H Thygesen, Huayu Zhang, Hanane Issa, et al.
Pageof 8