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 2016
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Number of items: 11.
Analysis with the exome array identifies multiple new independent variants in lipid loci - Alexessander Couto Alves, Stavroula Kanoni, Nicholas G.D. Masca, Kathleen E. Stirrups, Tibor V. Varga, Helen R. Warren, Robert A. Scott, Lorraine Southam, Weihua Zhang and Hanieh Yaghootkar
Type: Article
| 2016
| Item availability restricted.
Collagen (COL4A) mutations are the most frequent mutations underlying adult focal segmental glomerulosclerosis - Christine Gast, Reuben Pengelly, Matthew Lyon, David J. Bunyan, Eleanor G. Seaby, Nikki Graham, Gopalakrishnan Venkat-Raman and Sarah Ennis
Type: Article
| 2016
| Item not available on this server.
Point mutations in Exon 1B of APC reveal gastric adenocarcinoma and proximal polyposis of the stomach as a familial adenomatous polyposis variant - Jun Li, Susan L Woods, Sue Healey, Jonathan Beesley, Xiaoqing Chen, Jason S Lee, Haran Sivakumaran, Nicci Wayte, Katia Nones, Joshua J Waterfall, John Pearson, Anne-Marie Patch, Janine Senz, Manuel A Ferreira, Pardeep Kaurah, Robertson Mackenzie, Alireza Heravi-Moussavi, Samantha Hansford, Tamsin RM. Lannagan, Amanda B Spurdle, Peter T Simpson, Leonard da Silva, Sunil R Lakhani, Andrew D Clouston, Mark Bettington, Florian Grimpen, Rita A Busuttil, Natasha Di Costanzo, Alex Boussioutas, Marie Jeanjean, George Chong, Aurélie Fabre, Sylviane Olschwang, Geoffrey J Faulkner, Evangelos Bellos, Lachlan Coin, Kevin Rioux, Oliver F Bathe, Xiaogang Wen, Hilary C Martin, Deborah W Neklason, Sean R Davis, Robert L Walker, Kathleen A Calzone, Itzhak Avital, Theo Heller, Christopher Koh, Marbin Pineda, Udo Rudloff, Martha Quezado, Pavel N Pichurin, Peter J Hulick, Scott M Weissman, Anna Newlin, Wendy S Rubinstein, Jone E Sampson, Kelly Hamman, David Goldgar, Nicola Poplawski, Kerry Phillips, Lyn Schofield, Jacqueline Armstrong, Cathy Kiraly-Borri, Graeme K Suthers, David G Huntsman, William D Foulkes, Fatima Carneiro, Noralane M Lindor, Stacey L Edwards, Juliet D French, Nicola Waddell, Paul S Meltzer, Daniel L Worthley, Kasmintan A Schrader and Georgia Chenevix-Trench
Type: Article
| 2016
| Item not available on this server.
Association of forced vital capacity with the developmental gene NCOR2 - Cosetta Minelli, Charlotte H. Dean, Matthew Hind, Alexessander Couto Alves, Andre F.S. Amaral, Valerie Siroux, Ville Huikari, María Soler Artigas, David M. Evans, Daan W. Loth, Yohan Bossé, Dirkje S Postma, Don D. Sin, John R. Thompson, Florence Demenais and John Henderson
Type: Article
| 2016
Deleterious coding variants in multi-case families with non-syndromic cleft lip and/or palate phenotypes - Reuben Pengelly, Liliana Arias, Julio Martinez, Rosanna Upstill-Goddard, Eleanor G. Seaby, Jane Gibson, Sarah Ennis, Andrew Collins and Ignacio Briceno
Type: Article
| 2016
Type: Dataset
| 2016
| Zenodo
| Item not available on this server.
Commercial chicken breeds exhibit highly divergent patterns of linkage disequilibrium - Reuben Pengelly, Almas A. Gheyas, Richard Kuo, Enrico Mossotto, Eleanor G. Seaby, David W. Burt, Sarah Ennis and Andrew Collins
Type: Article
| 2016
Mutations specific to the Rac-GEF domain of TRIO cause intellectual disability and microcephaly - Reuben Pengelly, Stephanie Greville-Heygate, Susanne Schmidt, Eleanor G Seaby, M Reza Jabalameli, Sarju G Mehta, Michael J Parker, David Goudie, Christine Fagotto-Kaufmann, Catherine Mercer, Anne Debant, Sarah Ennis and Diana Baralle
Type: Article
| 2016
A principal component meta-analysis on multiple anthropometric traits identifies novel loci for body shape - J.S. Ried, J.M. Jeff, A.Y. Chu, J.L. Bragg-Gresham, J. Van Dongen, A. Couto Alves, C. Osmond and et al
Type: Article
| 2016
Progressive myoclonic epilepsy with Fanconi syndrome - Eleanor Seaby, Rodney Gilbert, Reuben Pengelly, Gaia Andreoletti, Antonia Clarke and Sarah Ennis
Type: Article
| 2016
Genome-wide association studies in infectious diseases - Eleanor Seaby, Victoria J. Wright and Michael Levin
Type: Article
| 2016
| Item not available on this server.