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American Journal of Human Genetics|October 30, 2012
In-frame mutations in exon 1 of SKI cause dominant Shprintzen-Goldberg syndromeVirginie Carmignac, Julien Thevenon, Lesley Adès, et al.
Medrxiv : the Preprint Server for Health Sciences|June 10, 2024
A corpus of GA4GH Phenopackets: case-level phenotyping for genomic diagnostics and discoveryDaniel Danis, Michael J Bamshad, Yasemin Bridges, et al.
Scientific Data|April 11, 2024
An open source knowledge graph ecosystem for the life sciencesTiffany J Callahan, Ignacio J Tripodi, Adrianne L Stefanski, et al.
NPJ Digital Medicine|May 19, 2023
Ontologizing health systems data at scale: making translational discovery a realityTiffany J Callahan, Adrianne L Stefanski, Jordan M Wyrwa, et al.
American Journal of Human Genetics|December 24, 2025
GA4GH phenopacket-driven characterization of genotype-phenotype correlations in Mendelian disordersLauren Rekerle, Daniel Danis, Filip Rehburg, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|July 25, 2022
Prenatal phenotyping: A community effort to enhance the Human Phenotype OntologyFerdinand Dhombres, Patricia Morgan, Bimal P Chaudhari, et al.
HGG Advances|October 12, 2024
A corpus of GA4GH phenopackets: Case-level phenotyping for genomic diagnostics and discoveryDaniel Danis, Michael J Bamshad, Yasemin Bridges, et al.
The Journal of Allergy and Clinical Immunology|May 15, 2021
Curation and expansion of Human Phenotype Ontology for defined groups of inborn errors of immunityMatthias Haimel, Julia Pazmandi, Raúl Jiménez Heredia, et al.
Human Mutation|August 22, 2015
The Matchmaker Exchange: a platform for rare disease gene discoveryAnthony A Philippakis, Danielle R Azzariti, Sergi Beltran, et al.
American Journal of Human Genetics|May 6, 2017
International Cooperation to Enable the Diagnosis of All Rare Genetic DiseasesKym M Boycott, Ana Rath, Jessica X Chong, et al.
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