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: 17.
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.
GWAS on longitudinal growth traits reveals different genetic factors influencing infant, child and adult BMI - Alex Couto Alves and N. Maneka G. De Silva
Type: Article
| 2019
Cell-type heterogeneity in adipose tissue is associated with complex traits and reveals disease-relevant cell-specific eQTLs - C.A. Glastonbury, A. Couto Alves, J.S. El-Sayed Moustafa and K.S. Small
Type: Article
| 2019
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
Growth disrupting mutations in epigenetic regulatory molecules are associated with abnormalities of epigenetic aging - Aaron R. Jeffries, Reza Maroofian, Claire Salter, Barry A. Chioza, Harold E. Cross, Michael A. Patton, Emma Dempster, I. Karen Temple, Deborah Mackay, Faisal I. Rezwan, Lise Aksglaede, Diana Baralle, Tabib Dabir, Matthew Frank Hunter, Arveen Kamath, Ajith Kumar, Ruth Newbury-Ecob, Angelo Selicorni, Amanda Springer, Lionel van Maldergem, Vinod Varghese, Naomi Yachelevich, Katrina Tatton-Brown, Jonathan Mill, Andrew H. Crosby and Emma Baple
Type: Article
| 2019
Epigenetic findings in periodontitis in UK twins: a cross-sectional study - Yuko Kurushima, Pei Chien Tsai, Juan Castillo-Fernandez, Alexessander Couto Alves, Julia Sarah El-Sayed Moustafa, Caroline Le Roy, Tim D. Spector, Mark Ide, Francis J. Hughes, Kerrin S. Small, Claire J. Steves and Jordana T. Bell
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.
Metabolomic understanding of intrinsic physiology in Panax ginseng during whole growing seasons - Hyo Jung Lee, Jaesik Jeong, Alexessander Couto Alves, Sung Tai Han, Gyo In, Eun Hee Kim, Woo Sik Jeong and Young Shick Hong
Type: Article
| 2019
MNS1 variant associated with situs inversus and male infertility - Joseph S Leslie, Lettie E. Rawlins, Barry A Chioza, Oluwaseun R. Olubodon, Claire Salter, James Fasham, Hannah Jones, Harold E. Cross, Simon Lam, V. Gaurav Harlalka, Martina M.A. Muggenthaler, Andrew H. Crosby and Emma L. Baple
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
Splicing in the pathogenesis, diagnosis and treatment of ciliopathies - Gabrielle Wheway, Jenny Lord and Diana Baralle
Type: Review
| 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
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.
Widening of the genetic and clinical spectrum of Lamb-Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency. - Ash Zawerton, Cyril Mignot, Ashley Sigafoos, Patrick Blackburn, Claire Salter and et al
Type: Article
| 2019
| Item not available on this server.