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Clinical Genetics|June 1, 2022
Further evidence for distinct traits associated with RBM10 missense variantsCathryn Poulton, Gareth Baynam, Kye Pugh, et al.Database : the Journal of Biological Databases and Curation|March 1, 2015
Automatic concept recognition using the human phenotype ontology reference and test suite corporaTudor Groza, Sebastian Köhler, Sandra Doelken, et al.Archives of Disease in Childhood|November 24, 2020
Microcephaly in Australian children, 2016-2018: national surveillance studyCarlos Nunez, Anne Morris, Cheryl A Jones, et al.Journal of Law and Medicine|May 15, 2020
Consideration of a Legislative Framework to Support the Diagnostic Odyssey Commonly Encountered in the Instance of Rare DiseaseMarisa Taliangis, Gareth BaynamPlos One|March 20, 2015
Assessing the impact of case sensitivity and term information gain on biomedical concept recognitionTudor Groza, Karin VerspoorAdvances in Experimental Medicine and Biology|August 7, 2010
Cornelia de Lange syndromeJinglan Liu, Gareth BaynamJournal of Maxillofacial and Oral Surgery|November 10, 2012
45,X/46,XY mosaicism and Oculo-Auriculo-Vertebral Spectrum following an IVF pregnancy: a report and a discussion of their interrelationshipsGareth Baynam, Jack GoldblattHGG Advances|December 12, 2025
A systematic assessment of large language models' knowledge of rare diseases: How much do large language models know about rare disease?Tudor Groza, Allison J Marcello, Tristan Carlisle, et al.Journal of Paediatrics and Child Health|August 12, 2014
Phenotyping: targeting genotype's rich cousin for diagnosisGareth Baynam, Mark Walters, Peter Claes, et al.American Journal of Medical Genetics. Part A|May 13, 2008
Deletion of 8p23.1 with features of Cornelia de Lange syndrome and congenital diaphragmatic hernia and a review of deletions of 8p23.1 to 8pter? A further locus for Cornelia de Lange syndromeGareth Baynam, Jack Goldblatt, Ian WalpolePageof 23