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BMJ Case Reports|June 9, 2012
A child with an STK11 mutation and Sotos syndrome-like features: can STK11 mutations produce a Sotos syndrome phenocopy?Gareth Baynam, Lyn Schofield, Jack GoldblattFrontiers in Genetics|April 19, 2024
Stigma associated with genetic testing for rare diseases-causes and recommendationsGareth Baynam, Roy Gomez, Ritu JainNPJ Digital Medicine|November 25, 2025
Information content as a health system screening tool for rare diseasesTudor Groza, Peter N Robinson, Weng Khong Lim, et al.Frontiers in Public Health|July 6, 2018
Changes to the Employers' Use of Genetic Information and Non-discrimination for Health Insurance in the USA: Implications for AustraliansGemma A Bilkey, Gareth Baynam, Caron MolsterPlos One|June 4, 2015
A supervised approach to quantifying sentence similarity: with application to evidence based medicineHamed Hassanzadeh, Tudor Groza, Anthony Nguyen, et al.Journal of Intelligent Information Systems|January 13, 2017
Modelling expertise at different levels of granularity using semantic similarity measures in the context of collaborative knowledge-curation platformsHasti Ziaimatin, Tudor Groza, Tania Tudorache, et al.Journal of Biomedical Informatics|December 17, 2013
Inferring characteristic phenotypes via class association rule mining in the bone dysplasia domainRazan Paul, Tudor Groza, Jane Hunter, et al.Plos One|December 11, 2012
Decision support methods for finding phenotype--disorder associations in the bone dysplasia domainRazan Paul, Tudor Groza, Jane Hunter, et al.Journal of Biomedical Semantics|February 7, 2014
Semantic interestingness measures for discovering association rules in the skeletal dysplasia domainRazan Paul, Tudor Groza, Jane Hunter, et al.Plos One|January 22, 2015
Generation of silver standard concept annotations from biomedical texts with special relevance to phenotypesAnika Oellrich, Nigel Collier, Damian Smedley, et al.Pageof 23