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Frontiers in Pediatrics|November 29, 2023
Surfacing undiagnosed disease: consideration, counting and codingMegan F Baxter, Michele Hansen, Dylan Gration, et al.
Bioinformatics (Oxford, England)|June 24, 2024
FastHPOCR: pragmatic, fast, and accurate concept recognition using the human phenotype ontologyTudor Groza, Dylan Gration, Gareth Baynam, et al.
American Journal of Human Genetics|April 17, 2025
First steps toward building natural history of diseases computationally: Lessons learned from the Noonan syndrome use caseTudor Groza, Warittha Rayabsri, Dylan Gration, et al.
BMC Medical Informatics and Decision Making|January 31, 2024
An evaluation of GPT models for phenotype concept recognitionTudor Groza, Harry Caufield, Dylan Gration, et al.
Plos Medicine|February 26, 2026
Reimagining care of people living with rare diseases with artificial intelligenceTudor Groza, Gareth Baynam, Saumya Shekhar Jamuar
Pediatric Dermatology|September 19, 2019
Autosomal recessive congenital ichthyosis due to homozygous variants in NIPAL4 with a dramatic response to ustekinumabCathryn Poulton, Dylan Gration, Kevin Murray, et al.
Paediatric and Perinatal Epidemiology|May 5, 2023
Trends in prenatal diagnosis of congenital anomalies in Western Australia between 1980 and 2020: A population-based studyCassandra MacArthur, Michele Hansen, Gareth Baynam, et al.
Pediatrics|November 17, 2018
Intellectual Disability in Children Conceived Using Assisted Reproductive TechnologyMichele Hansen, Kathryn R Greenop, Jenny Bourke, et al.
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