Items where Division is "Current Faculties > Faculty of Medicine > Human Development and Health > Human Genetics and Genomic Medicine
Human Development and Health > Human Genetics and Genomic Medicine" and Year is 2019
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Number of items: 10.
Article
Increased prevalence of anti-TNF therapy in paediatric inflammatory bowel disease is associated with a decline in surgical resections during childhood - James J Ashton, Florina Borca, Enrico Mossotto, Tracy, Antonio Francisco Coelho, Akshay Batra, Nadeem A. Afzal, Hang Thi Thu Phan, Michael Stanton, Sarah Ennis and R. Mark Beattie
Type: Article
| 2019
Personalising medicine in inflammatory bowel disease—current and future perspectives - James J. Ashton, Enrico Mossotto, Sarah Ennis and R. Mark Beattie
Type: Article
| 2019
| Item availability restricted.
Systematic review of somatic mutations in splenic marginal zone lymphoma - Carolina Jaramillo Oquendo, Carolina Jaramillo Oquendo, Helen Parker, David G. Oscier, Sarah Ennis, Jane Gibson and Jonathan Strefford
Type: Article
| 2019
Identification of disease-associated loci using machine learning for genotype and network data integration - Luis G. Leal, Alessia David, Marjo-Riita Jarvelin, Sylvain Sebert, Minna Männikkö, Ville Karhunen, Eleanor Seaby, Clive Hoggart and Michael J. E. Sternberg
Type: Article
| 2019
| Item not available on this server.
Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study - Jenny Lord, Dominic J. McMullan and Ruth Y. Eberhardt
Type: Article
| 2019
GenePy - a score for estimating gene pathogenicity in individuals using next-generation sequencing data - Enrico Mossotto, James Ashton, Luke O'Gorman, Reuben Pengelly, R. Mark Beattie, Benjamin Macarthur and Sarah Ennis
Type: Article
| 2019
A Combined in silico, in vitro and clinical approach to characterize novel pathogenic missense variants in PRPF31 in retinitis pigmentosa - Gabrielle Wheway, Liliya Nazlamova, Nervine Meshad, Samantha Hunt, Nicola Jackson and Amanda Churchill
Type: Article
| 2019
661W photoreceptor cell line as a cell model for studying retinal ciliopathies - Gabrielle Wheway, Liliya Nazlamova, Dann Turner and Stephen Cross
Type: Article
| 2019
Letter
Postscript: 'catch-up' growth of infants with IUGR does not significantly contribute to the whole-cohort weight gain pattern - Aneurin Young, Edward T. Andrews, James John Ashton, Freya Pearson, R. Mark Beattie and Mark John Johnson
Type: Letter
| 2019
| Item not available on this server.
Review
Splicing in the pathogenesis, diagnosis and treatment of ciliopathies - Gabrielle Wheway, Jenny Lord and Diana Baralle
Type: Review
| 2019