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Items where Division is "Current Faculties > Faculty of Medicine > Human Development and Health > Human Genetics
Human Development and Health > Human Genetics" and Year is 2019

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Number of items: 7.


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.


Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study - Jenny Lord, Dominic J. McMullan, Ruth Y. Eberhardt, Gabriele Rinck, Susan J. Hamilton, Elizabeth Quinlan-Jones, Elena Prigmore, Rebecca Keelagher, Sunayna K. Best, Georgina K. Carey, Rhiannon Mellis, Sarah Robart, Ian R. Berry, Kate E. Chandler, Deirdre Cilliers, Lara Cresswell, Sandra L. Edwards, Carol Gardiner, Alex Henderson, Simon T. Holden, Tessa Homfray, Tracy Lester, Rebecca Lewis, Ruth Newbury-Ecob, Katrina Prescott, Oliver W. Quarrell, Simon C. Ramsden, Eileen Roberts, Dagmar Tapon, Madeleine J. Tooley, Pradeep C. Vasudevan, Astrid P. Weber, Diana G. Wellesley, Paul Westwood, Helen White, Michael Parker, Denise Williams, Lucy Jenkins, Richard H. Scott, Mark D. Kilby, Lyn S. Chitty, Matthew E. Hurles, Eamonn R. Maher, Mark Bateman, Carolyn Campbell, Jenni Campbell, Georgina Carey, Kelly Cohen, Rebecca Lewis and Emma J. Taylor
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


Splicing in the pathogenesis, diagnosis and treatment of ciliopathies - Gabrielle Wheway, Jenny Lord and Diana Baralle
Type: Review | 2019 | Item availability restricted.

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

This list was generated on Tue Jul 7 01:54:54 2020 BST.
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