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Items where Division is "Faculties (pre 2011 reorg) > Faculty of Medicine Health & Life Sciences (pre 2011 reorg) > Medicine (pre 2011 reorg) > Human Genetics (pre 2011 reorg)
Faculties (pre 2018 reorg) > Faculty of Medicine (pre 2018 reorg) > Medicine (pre 2011 reorg) > Human Genetics (pre 2011 reorg)" and Year is 2008

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Number of items: 31.

Variable breakpoints target PAX5 in patients with dicentric chromosomes: a model for the basis of unbalanced translocations in cancer - Qian An, Sarah L. Wright, Zoë J. Konn, Elizabeth Matheson, Lynne Minto, Anthony V. Moorman, Helen Parker, Mike Griffiths, Fiona M. Ross, Teresa Davies, Andy G. Hall, Christine J. Harrison, Julie A. Irving and Jon C. Strefford
Type: Article | 2008 | Item not available on this server.

Type: Article | 2008 | Item not available on this server.

Breakpoint mapping and array CGH in translocations: comparison of a phenotypically normal and an abnormal cohort - J. Baptista, C. Mercer, E. Prigmore, S.M. Gribble, N.P. Carter, V. Maloney, N.S. Thomas, P.A. Jacobs and J.A. Crolla
Type: Article | 2008 | Item not available on this server.

Lack of conventional dendritic cells is compatible with normal development and T cell homeostasis, but causes myeloid proliferative syndrome - Tal Birnberg, Liat Bar-On, Anita Sapoznikov, Michele L. Caton, Luisa Cervantes-Barragán, Divine Makia, Rita Krautgamer, Ori Brenner, Burkhard Ludewig, Damian Brockschnieder, Dieter Riethmacher, Boris Reizis and Steffan Jung
Type: Article | 2008 | Item not available on this server.

A novel 2.43 Mb deletion of 7q11.22-q11.23 - Moira Blyth, Sarah Beal, Shuwen Huang, John Crolla and Nicola Foulds
Type: Article | 2008 | Item not available on this server.

A 2.3Mb deletion of 17q24.2-q24.3 associated with ‘Carney Complex plus’ - Moira Blyth, Shuwen Huang, Viv Maloney, John A. Crolla and I.Karen Temple
Type: Article | 2008 | Item not available on this server.

Desirable performance characteristics for BCR-ABL measurement on an international reporting scale to allow consistent interpretation of individual patient response and comparison of response rates between clinical trials - Susan Branford, Linda Fletcher, Nicholas C.P. Cross, Martin C. Müller, Andreas Hochhaus, Dong-Wook Kim, Jerald P. Radich, Giuseppe Saglio, Fabrizio Pane, Suzanne Kamel-Reid, Y. Lynn Wang, Richard D. Press, Kevin Lynch, Zbigniew Rudzki, John M. Goldman and Timothy Hughes
Type: Article | 2008 | Item not available on this server.

Type: Meeting abstract | 2008 | Item not available on this server.

Type: Book Section | 2008 | Humana | Item not available on this server.

Association between the SERPING1 gene and age-related macular degeneration: a two-stage case-control study - Sarah Ennis, Catherine Jomary, Robert Mullins, Angela Cree, Xiaoli Chen, Alex Macleod, Stephen Jones, Andrew Collins, Edwin Stone and Andrew Lotery
Type: Article | 2008 | Item not available on this server.

A multimetric approach to analysis of genome-wide association by single markers and composite likelihood - Jane Gibson, William Tapper, David Cox, Weihua Zhang, Arne Pfeufer, Christian Gieger, H.-Erich Wichmann, Stefan Kaab, Andrew R. Collins, Thomas Meitinger and Newton Morton
Type: Article | 2008 | Item not available on this server.

Type: Article | 2008 | Item not available on this server.

Type: Thesis | 2008

The role of LTA4H and ALOX5AP polymorphism in asthma and allergy susceptibility. - J.W. Holloway, S.J Barton, S.T . Holgate, M.J. Rose-Zerilli and I. Sayers
Type: Article | 2008 | Item not available on this server.

17q21 Variants and asthma - questions and answers - J.W. Holloway and G.H. Koppelman
Type: Article | 2008 | Item not available on this server.

Type: Article | 2008 | Item not available on this server.

Defensins and the dynamic genome: What we can learn from structural variation at human chromosome band 8p23.1 - Edward J. Hollox, John C.K. Barber, Aathony J. Brookes and John A.L. Armour
Type: Article | 2008 | Item not available on this server.

The genome-wide patterns of variation expose significant substructure in a founder population - Eveliina Jakkula, Karola Rehnstrom, Teppo Varilo, Olli P.H. Pietiläinen, Tiina Paunio, Nancy L. Pedersen, Ulf deFaire, Marjo-Riitta Järvelin, Juha Saharinen, Nelson Freimer, Samuli Ripatti, Shaun Purcell, Andrew Collins, Mark J. Daly, Aarno Palotie and Leena Peltonen
Type: Article | 2008 | Item not available on this server.

Rapid identification of JAK2 exon 12 mutations using high resolution melting analysis - A.V. Jones, N.C. Cross, H.E. White, A.R. Green and L.M. Scott
Type: Article | 2008 | Item not available on this server.

Cellular localization of interleukin 13 receptor alpha2 in human primary bronchial epithelial cells and fibroblasts - A.K. Konstantinidis, S.M. Puddicombe, A. Mochizuki, P.D. Sheth, I.A. Yang, H. Yoshisue, S.J. Wilson, D.E. Davies, S.T. Holgate and J.W. Holloway
Type: Article | 2008 | Item not available on this server.

Safety and efficacy of imatinib in chronic eosinophilic leukaemia and hyperosinophilic syndrome - a phase-II study - G. Metzgeroth, C. Walz, P. Erben, H. Popp, A. Schmitt-Graeff, C. Haferlach, A. Fabarius, S. Schmittger, D. Grimwade, N.C. Cross, R. Hehlmann, A. Hochhaus and A. Reiter
Type: Article | 2008 | Item not available on this server.

Type: Book Section | 2008 | Humana | Item not available on this server.

Chlorination disinfection by-products and risk of congenital anomalies in England and Wales - Mark J. Nieuwenhuijsen, Mireille B. Toledano, James Bennett, Nicky Best, Peter Hambly, Cornelis de Hoogh, Dianna Wellesley, Patricia A. Boyd, Lenore Abramsky, Nirupa Dattani, John Fawell, David Briggs, Lars Jarup and Paul Elliott
Type: Article | 2008 | Item not available on this server.

Cytogenetic and genomic characterization of cell line ARH77 - Helen Parker, Kan L. Cheung, Hazel M. Robinson, Christine J. Harrison and Jon C. Strefford
Type: Article | 2008 | Item not available on this server.

Type: Thesis | 2008

Polypyrimidine tract binding protein regulates alternative splicing of an aberrant pseudoexon in NF1 - Michela Raponi, Emanuele Buratti, Miriam Llorian, Cristiana Stuani, CHristiana W.J. Smith and Diana Baralle
Type: Article | 2008 | Item not available on this server.

Hypophosphatemia, hyperphosphaturia, and bisphosphonate treatment are associated with survival beyond infancy in generalized arterial calcification of infancy - Frank Rutsch, Petra Boyer, Yvonne Nitschke, Nico Ruf, Bettina Lorenz-Depierieux, Tanja Wittkampf, Gabriele Weissen-Plenz, Rudolf-josef Fischer, Zulf Mughal, John W. Gregory, Justin H. Davies, Chantal Loirat, Tim M. Strom, Dirk Schnabel, Peter Nurnberg and Robert Terkeltaub
Type: Article | 2008 | Item not available on this server.

The influence of genetic variation in thirty selected genes on the clinical characteristics of early onset breast cancer - William Tapper, Victoria Hammond, Sue Gerty, Sarah Ennis, Peter Simmonds, Andrew Collins and Diana Eccles
Type: Article | 2008

A single centre experience of mastocytosis: Guy's and St Thomas' NHS Foundation Trust - J.J. Thomson, M. Moonim, J. Van der Walt, C. Grattan, F. Lawlor, J. White, N.C.P. Cross, C. Harrison and D. Radia
Type: Article | 2008 | Item not available on this server.

Clinical and radiographic delineation of odontochondrodysplasia - Sheila Unger, Franco Antoniazzi, Milena Brugnara, Yasemin Alanay, Ahmet Caglayan, Katherine Lachlan, Shiro Ikegawa, Gen Nishimura, Bernhard Zabel, Jurgen Spranger and Andrea Superti-Furga
Type: Article | 2008 | Item not available on this server.

Novel heterozygous OTX2 mutations and whole gene deletions in anophthalmia, microphthalmia and coloboma - Alexander Wyatt, Preet Bakrania, David J. Bunyan, Robert J. Osborne, John A. Crolla, Alison Salt, Carmen Ayuso, Ruth Newbury-Ecob, Y. Abou-Rayyah, J. Richard O. Collin, David Robinson and Nicola Ragge
Type: Article | 2008 | Item not available on this server.

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