Showing 1 - 20 results of 35 for search 'Clayton Smith', query time: 0.06s
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The non-deletion alpha thalassaemia/mental retardation syndrome: further support for X linkage. by Donnai, D, Clayton-Smith, J, Gibbons, R, Higgs, D
Published 1991Journal article -
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Practice guidelines for the molecular analysis of Prader-Willi and Angelman syndromes by Birch Rachael, Clayton-Smith Jill, Ramsden Simon C, Buiting Karin
Published 2010-05-01
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Screening for subtelomeric chromosome deletions in children with idiopathic mental retardation by Slavotinek, A, Knight, S, Tassabehji, M, ClaytonSmith, J, Kingston, H, Gaunt, L, Flint, J, Donnai, D
Published 1997Journal article -
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Clinical and hematologic aspects of the X-linked alpha-thalassemia/mental retardation syndrome (ATR-X). by Gibbons, R, Brueton, L, Buckle, V, Burn, J, Clayton-Smith, J, Davison, B, Gardner, R, Homfray, T, Kearney, L, Kingston, H
Published 1995Journal article -
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P540: RESULTS FROM A PHASE 1 CLINICAL STUDY OF THE ALL-ORAL REGIMEN OF CC-486 AND VENETOCLAX FOR RELAPSED AND REFRACTORY ACUTE MYELOID LEUKEMIA (AML) by Maria Amaya, Christine Mcmahon, Jonathan Aaron Gutman, Marc Schwartz, Brett Sevens, Connor Sohalski, Jennifer Tobin, Clayton Smith, Craig T Jordan, Daniel Aaron Pollyea
Published 2023-08-01
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Array comparative genomic hybridisation-based identification of two imbalances of chromosome 1p in a 9-year-old girl with a monosomy 1p36 related phenotype and a family history of... by Fitzgibbon Gregory J, Clayton-Smith Jill, Banka Siddharth, Hamilton Susan J, Needham Margaret M, Dore Jonathan K, Miller Jake T, Pawson Gareth D, Gaunt Lorraine
Published 2008-11-01
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PB1761: PRECLINICAL EVALUATION OF THE MENIN INHIBITOR ZIFTOMENIB IN PRIMARY AML SPECIMENS by Brett Stevens, Krysta Engel, Austin Gillen, Shanshan Pei, Anna Krug, Monica Ransom, Sarah Staggs, Francis Burrows, Blake Tomkinson, Linda Kessler, Craig Jordan, Clayton Smith
Published 2023-08-01
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Screening for submicroscopic chromosome rearrangements in children with idiopathic mental retardation using microsatellite markers for the chromosome telomeres. by Slavotinek, A, Rosenberg, M, Knight, S, Gaunt, L, Fergusson, W, Killoran, C, Clayton-Smith, J, Kingston, H, Campbell, R, Flint, J, Donnai, D, Biesecker, L
Published 1999Journal article -
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The Role of Genetic Testing in Children Requiring Surgery for Ectopia Lentis by Mohammud Musleh, Adam Bull, Emma Linton, Jingshu Liu, Sarah Waller, Claire Hardcastle, Jill Clayton-Smith, Vinod Sharma, Graeme C. Black, Susmito Biswas, Jane L. Ashworth, Panagiotis I. Sergouniotis
Published 2023-03-01
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DYSCERNE: developing clinical management guidelines for selected dysmorphic syndromes by Krajewska-Walasek Malgorzata, Devriendt Koenraad, Donnai Dian, Dallapiccola Bruno, Brunner Han, Metcalfe Kay, Bronwyn Kerr, Harrison Caroline, Day Ruth, Gardner Sara, Strong Kate, Griffiths Pam, Philip Nicole, Clayton-Smith Jill
Published 2010-10-01Article -
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RAC1 missense mutations in developmental disorders with diverse phenotypes by Reijnders, MRF, Ansor, NM, Kousi, M, Yue, WW, Tan, PL, Clarkson, K, Clayton-Smith, J, Corning, K, Jones, JR, Lam, WWK, Mancini, GMS, Marcelis, C, Mohammed, S, Pfundt, R, Roifman, M, Cohn, R, Chitayat, D, Millard, TH, Katsanis, N, Brunner, HG, Banka, S
Published 2017Journal article -
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Greener Operations: a James Lind Alliance Priority Setting Partnership to define research priorities in environmentally sustainable perioperative practice through a structured cons... by David Jones, Jonathan Gower, Daniel Morris, Fiona Brennan, John Hitchman, S Michael Kinsella, Clifford Shelton, Victoria Pegna, Rebecca Knagg, Max Clayton-Smith, Hrishi Narayanan, Louise Bates, Mike Donnellon, Jenny Dorey, Bob Evans, Yasmina Hamdaoui, Cathy Lawson, Tracey Radcliffe, Olivia Schaff, Tim Sheppard, Jennifer Strong, Beck Diedo
Published 2023-03-01
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A recurrent mosaic mutation of SMO, encoding the hedgehog signal transducer Smoothened, is the major cause of Curry-Jones syndrome by Twigg, S, Wilkie, A, Hufnagel, R, Miller, K, Zhou, Y, McGowan, S, Taylor, J, Craft, J, Taylor, J, Santoro, S, Huang, T, Hopkin, R, Brady, A, Clayton-Smith, J, Clericuzio, C, Grange, D, Groesser, L, Hafner, C, Horn, D, Temple, I, Dobyns, W, Curry, C, Jones, M, Wilkie, A
Published 2016Journal article -
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Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes. by Mefford, H, Sharp, A, Baker, C, Itsara, A, Jiang, Z, Buysse, K, Huang, S, Maloney, V, Crolla, J, Baralle, D, Collins, A, Mercer, C, Norga, K, de Ravel, T, Devriendt, K, Bongers, E, de Leeuw, N, Reardon, W, Gimelli, S, Bena, F, Hennekam, R, Male, A, Gaunt, L, Clayton-Smith, J, Simonic, I
Published 2008Journal article