Výsledky vyhledávání - Quarrell, Oliver W

Managing juvenile Huntington’s disease Autor Quarrell, Oliver W. J., Nance, Martha A., Nopoulos, Peggy, Paulsen, Jane S., Smith, Jonathan A., Squitieri, Ferdinando

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22 Years of predictive testing for Huntington's disease: the experience of the UK Huntington's Prediction Consortium Autor Baig, Sheharyar S, Strong, Mark, Rosser, Elisabeth, Taverner, Nicola V, Glew, Ruth, Miedzybrodzka, Zosia, Clarke, Angus, Craufurd, David, Quarrell, Oliver W

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Discrepancies in reporting the CAG repeat lengths for Huntington's disease Autor Quarrell, Oliver W, Handley, Olivia, O'Donovan, Kirsty, Dumoulin, Christine, Ramos-Arroyo, Maria, Biunno, Ida, Bauer, Peter, Kline, Margaret, Landwehrmeyer, G Bernhard

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22 Years of predictive testing for Huntington's disease: the experience of the UK Huntington's Prediction Consortium Autor Baig, Sheharyar S, Strong, Mark, Rosser, Elisabeth, Taverner, Nicola V, Glew, Ruth, Miedzybrodzka, Zosia, Clarke, Angus, Craufurd, David, Disease Prediction Consortium, UK Huntington's, Quarrell, Oliver W

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A hypomorphic allele of SLC35D1 results in Schneckenbecken-like dysplasia Autor Rautengarten, Carsten, Quarrell, Oliver W, Stals, Karen, Caswell, Richard C, De Franco, Elisa, Baple, Emma, Burgess, Nadia, Jokhi, Roobin, Heazlewood, Joshua L, Offiah, Amaka C, Ebert, Berit, Ellard, Sian

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Large-scale open-source three-dimensional growth curves for clinical facial assessment and objective description of facial dysmorphism Autor Matthews, Harold S., Palmer, Richard L., Baynam, Gareth S., Quarrell, Oliver W., Klein, Ophir D., Spritz, Richard A., Hennekam, Raoul C., Walsh, Susan, Shriver, Mark, Weinberg, Seth M., Hallgrimsson, Benedikt, Hammond, Peter, Penington, Anthony J., Peeters, Hilde, Claes, Peter D.

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Reduced penetrance alleles for Huntington's disease: a multi‐centre direct observational study Autor Quarrell, Oliver W J, Rigby, Alan S, Barron, L, Crow, Y, Dalton, A, Dennis, N, Fryer, A E, Heydon, F, Kinning, E, Lashwood, A, Losekoot, M, Margerison, L, McDonnell, S, Morrison, P J, Norman, A, Peterson, M, Raymond, F L, Simpson, S, Thompson, E, Warner, J

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Temtamy Preaxial Brachydactyly Syndrome Is Caused by Loss-of-Function Mutations in Chondroitin Synthase 1, a Potential Target of BMP Signaling Autor Li, Yun, Laue, Kathrin, Temtamy, Samia, Aglan, Mona, Kotan, L. Damla, Yigit, Gökhan, Canan, Husniye, Pawlik, Barbara, Nürnberg, Gudrun, Wakeling, Emma L., Quarrell, Oliver W., Baessmann, Ingelore, Lanktree, Matthew B., Yilmaz, Mustafa, Hegele, Robert A., Amr, Khalda, May, Klaus W., Nürnberg, Peter, Topaloglu, A. Kemal, Hammerschmidt, Matthias, Wollnik, Bernd

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Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study Autor Lord, Jenny, McMullan, Dominic J, Eberhardt, Ruth Y, Rinck, Gabriele, Hamilton, Susan J, Quinlan-Jones, Elizabeth, Prigmore, Elena, Keelagher, Rebecca, Best, Sunayna K, Carey, Georgina K, Mellis, Rhiannon, Robart, Sarah, Berry, Ian R, Chandler, Kate E, Cilliers, Deirdre, Cresswell, Lara, Edwards, Sandra L, Gardiner, Carol, Henderson, Alex, Holden, Simon T, Homfray, Tessa, Lester, Tracy, Lewis, Rebecca A, Newbury-Ecob, Ruth, Prescott, Katrina, Quarrell, Oliver W, Ramsden, Simon C, Roberts, Eileen, Tapon, Dagmar, Tooley, Madeleine J, Vasudevan, Pradeep C, Weber, Astrid P, Wellesley, Diana G, Westwood, Paul, White, Helen, Parker, Michael, Williams, Denise, Jenkins, Lucy, Scott, Richard H, Kilby, Mark D, Chitty, Lyn S, Hurles, Matthew E, Maher, Eamonn R

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