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Thrombosis and Haemostasis|May 11, 1999
Factor V Leiden (Arg506Gln), a confounding genetic risk factor but not mandatory for the occurrence of venous thromboembolism in homozygotes and obligate heterozygotes for cystathionine beta-synthase deficiencyS Yap, K A O'Donnell, C O'Neill, et al.Annals of Clinical Biochemistry|September 1, 1984
A new alkaline phosphatase isoenzyme abnormalityP D Mayne, A Y Foo, R Michelson, et al.Journal of Clinical Pathology|May 1, 1989
Development of a radioimmunoassay for measuring gonadotrophin releasing hormone in patients receiving treatmentV A Mosby, M L Knapp, R S Fink, et al.Irish Medical Journal|April 21, 2020
Medium Chain Acyl-CoA Dehydrogenase Deficiency (MCADD) in the Irish Paediatric PopulationZ Mesbah, K Sing Ho, P Fitzsimons, et al.Molecular Genetics and Metabolism|January 27, 2004
Identification of sequence variation in the galactose-1-phosphate uridyl transferase gene by dHPLCJonathon M Flanagan, Orna Tighe, Charles O' Neill, et al.Clinical Pediatrics|July 10, 2014
Vitamin D status in Irish children and adolescents: value of fortification and supplementationAoife Carroll, Chike Onwuneme, Malachi J McKenna, et al.Molecular Genetics and Metabolism|August 17, 2004
Frequency distribution of the Los Angeles and Duarte galactose-1-phosphate uridyltransferase variant alleles in the Irish populationOrna Tighe, Jonathon M Flanagan, Fiona Kernan, et al.Journal of Inherited Metabolic Disease|October 27, 2004
Glutaric aciduria type I: outcome in the Republic of IrelandE R Naughten, P D Mayne, A A Monavari, et al.European Journal of Human Genetics : EJHG|August 13, 2002
The mutation spectrum of hyperphenylalaninaemia in the Republic of Ireland: the population history of the Irish revisitedKate A O'Donnell, Charles O'Neill, Orna Tighe, et al.European Journal of Pediatrics|February 24, 2010
Progressive cerebellar degenerative changes in the severe mental retardation syndrome caused by duplication of MECP2 and adjacent loci on Xq28William Reardon, Veronica Donoghue, Anne-Marie Murphy, et al.Pageof 6