Next generation sequencing (NGS) to improve the diagnosis and management of patients with disorders of sex development (DSD)
Hughes, L A, McKay-Bounford, K, Webb, E A, Dasani, P, Clokie, S, Chandran, H, McCarthy, L, Mohamed, Z, Kirk, J M W, Krone, N P, Allen, S, Cole, T R P
Published in Endocrine Connections (01.02.2019)
Published in Endocrine Connections (01.02.2019)
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Journal Article
Beckwith-Wiedemann syndrome and assisted reproduction technology (ART)
Maher, E R, Brueton, L A, Bowdin, S C, Luharia, A, Cooper, W, Cole, T R, Macdonald, F, Sampson, J R, Barratt, C L, Reik, W, Hawkins, M M
Published in Journal of medical genetics (01.01.2003)
Published in Journal of medical genetics (01.01.2003)
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Journal Article
Methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA) robustly detects and distinguishes 11p15 abnormalities associated with overgrowth and growth retardation
Scott, R H, Douglas, J, Baskcomb, L, Nygren, A O, Birch, J M, Cole, T R, Cormier-Daire, V, Eastwood, D M, Garcia-Minaur, S, Lupunzina, P, Tatton-Brown, K, Bliek, J, Maher, E R, Rahman, N
Published in Journal of medical genetics (01.02.2008)
Published in Journal of medical genetics (01.02.2008)
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Journal Article
Germline E-cadherin Gene (CDH1) Mutations Predispose to Familial Gastric Cancer and Colorectal Cancer
Richards, Frances M., McKee, Shane A., Rajpar, M. Helen, Cole, Trevor R. P., Evans, D. Gareth R., Jankowski, Janusz A., McKeown, Carole, Sanders, D. Scott A., Maher, Eamonn R.
Published in Human molecular genetics (01.04.1999)
Published in Human molecular genetics (01.04.1999)
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Journal Article
Outflow Graft Obstruction Causing Recurrent Heart Failure after Left Ventricular Assist Device Implantation
Burke, M.A., Alexy, T., Kamioka, N., Shafi, T., Turbyfield, C.T., Stowe, J., Porter, J.A., Iturbe, J.M., Kim, D.W., Wittersheim, K.M., Nguyen, D., Laskar, S.R., Gupta, D., Bhatt, K.N., Smith, A.L., Cole, R.T., Morris, A.A., Vega, J.D., Babaliaros, V.
Published in The Journal of heart and lung transplantation (01.04.2020)
Published in The Journal of heart and lung transplantation (01.04.2020)
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Journal Article
A LabVIEW model incorporating an open-loop arterial impedance and a closed-loop circulatory system
Cole, R T, Lucas, C L, Cascio, W E, Johnson, T A
Published in Annals of biomedical engineering (01.11.2005)
Published in Annals of biomedical engineering (01.11.2005)
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Journal Article
Growth in Sotos syndrome
Agwu, J C, Shaw, N J, Kirk, J, Chapman, S, Ravine, D, Cole, T R P
Published in Archives of disease in childhood (01.04.1999)
Published in Archives of disease in childhood (01.04.1999)
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Journal Article
Chromosome 2 interstitial deletion (del(2)(q14.1q21)) associated with connective tissue laxity and an attention deficit disorder
Baker, K L, Rees, M I, Thompson, P W, Howell, R T, Cole, T R, Hughes, H E, Upadhyaya, M, Ravine, D
Published in Journal of medical genetics (01.07.2001)
Published in Journal of medical genetics (01.07.2001)
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Journal Article
Marshall-Smith syndrome: the expanding phenotype
Williams, D K, Carlton, D R, Green, S H, Pearman, K, Cole, T R
Published in Journal of medical genetics (01.10.1997)
Published in Journal of medical genetics (01.10.1997)
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Journal Article
Partial NSD1 deletions cause 5% of Sotos syndrome and are readily identifiable by multiplex ligation dependent probe amplification
Douglas, J, Tatton-Brown, K, Coleman, K, Guerrero, S, Berg, J, Cole, T R P, FitzPatrick, D, Gillerot, Y, Hughes, H E, Pilz, D, Raymond, F L, Temple, I K, Irrthum, A, Schouten, J P, Rahman, N
Published in Journal of medical genetics (01.09.2005)
Published in Journal of medical genetics (01.09.2005)
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Journal Article
What have we "made" of aging?
Cole, T R
Published in The journals of gerontology. Series B, Psychological sciences and social sciences (01.11.1995)
Published in The journals of gerontology. Series B, Psychological sciences and social sciences (01.11.1995)
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Journal Article
Cancer and congenital abnormalities in Asian children: a population-based study from the West Midlands
POWELL, J. E, KELLY, A. M, PARKES, S. E, COLE, T. R. P, MANN, J. R
Published in British journal of cancer (01.12.1995)
Published in British journal of cancer (01.12.1995)
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Journal Article
Comparative proteomics of Staphylococcus aureus and the response of methicillin-resistant and methicillin-sensitive strains to Triton X-100
Cordwell, Stuart J, Larsen, Martin R, Cole, Rebecca T, Walsh, Bradley J
Published in Microbiology (Society for General Microbiology) (01.09.2002)
Published in Microbiology (Society for General Microbiology) (01.09.2002)
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Journal Article
Connective tissue regeneration to periodontally diseased teeth. A histological study
Cole, R T, Crigger, M, Bogle, G, Egelberg, J, Selvig, K A
Published in Journal of periodontal research (01.01.1980)
Published in Journal of periodontal research (01.01.1980)
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