检索结果 - Quarrell, Oliver

Primer of Genetic Analysis 由 Quarrell, Oliver

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The Prevalence of Juvenile Huntington's Disease: A Review of the Literature and Meta-Analysis 由 Quarrell, Oliver, O'Donovan, Kirsty L, Bandmann, Oliver, Strong, Mark

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Responding to the increased genetic risk associated with customary consanguineous marriage among minority ethnic populations: lessons from local innovations in England 由 Salway, Sarah, Ali, Parveen, Ratcliffe, Giles, Such, Elizabeth, Khan, Nasaim, Kingston, Helen, Quarrell, Oliver

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

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Current Pharmacological Management in Juvenile Huntington’s Disease 由 Robertson, Lisa, Santini, Helen, O'Donovan, Kirsty L, Squitieri, Ferdinando, Barker, Roger A, Rakowicz, Maria, Landwehrmeyer, G. Bernhard, Quarrell, Oliver

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22 Years of predictive testing for Huntington's disease: the experience of the UK Huntington's Prediction Consortium 由 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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A case-note review of continued pregnancies found to be at a high risk of Huntington’s disease: considerations for clinical practice 由 Wadrup, Felicity, Holden, Simon, MacLeod, Rhona, Miedzybrodzka, Zosia, Németh, Andrea H., Owens, Shan, Pasalodos, Sara, Quarrell, Oliver, Clarke, Angus J.

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Discrepancies in reporting the CAG repeat lengths for Huntington's disease 由 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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Can the diagnosis of NF1 be excluded clinically? A lack of pigmentary findings in families with spinal neurofibromatosis demonstrates a limitation of clinical diagnosis 由 Burkitt Wright, Emma MM, Sach, Emma, Sharif, Saba, Quarrell, Oliver, Carroll, Thomas, Whitehouse, Richard W, Upadhyaya, Meena, Huson, Susan M, Evans, D Gareth R

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22 Years of predictive testing for Huntington's disease: the experience of the UK Huntington's Prediction Consortium 由 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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Fine-grained facial phenotype–genotype analysis in Wolf–Hirschhorn syndrome 由 Hammond, Peter, Hannes, Femke, Suttie, Michael, Devriendt, Koen, Vermeesch, Joris Robert, Faravelli, Francesca, Forzano, Francesca, Parekh, Susan, Williams, Steve, McMullan, Dominic, South, Sarah T, Carey, John C, Quarrell, Oliver

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A hypomorphic allele of SLC35D1 results in Schneckenbecken-like dysplasia 由 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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Opposite effects on facial morphology due to gene dosage sensitivity 由 Hammond, Peter, McKee, Shane, Suttie, Michael, Allanson, Judith, Cobben, Jan-Maarten, Maas, Saskia M., Quarrell, Oliver, Smith, Ann C. M., Lewis, Suzanne, Tassabehji, May, Sisodiya, Sanjay, Mattina, Teresa, Hennekam, Raoul

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Characterization of Gastric Mucosa Biopsies Reveals Alterations in Huntington's Disease 由 McCourt, Andrew C, O'Donovan, Kirsty L, Ekblad, Eva, Sand, Elin, Craufurd, David, Rosser, Anne, Sanders, David, Stoy, Nicholas, Rickards, Hugh, Wierup, Nils, Bates, Gillian P., Björkqvist, Maria, Quarrell, Oliver

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Predictive genetic testing for Motor neuron disease: time for a guideline? 由 McNeill, Alisdair, Amador, Maria-del-Mar, Bekker, Hilary, Clarke, Angus, Crook, Ashley, Cummings, Cathy, McEwen, Alison, McDermott, Christopher, Quarrell, Oliver, Renieri, Alessandra, Roggenbuck, Jennifer, Salmon, Kristiana, Volk, Alexander, Weishaupt, Jochen

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The personal experience of parenting a child with Juvenile Huntington's Disease: perceptions across Europe 由 Eatough, Virginia, Santini, Helen, Eiser, Christine, Goller, Marie-Louise, Krysa, Wioletta, de Nicola, ‘Annunziata', Paduanello, Matteo, Petrollini, Martina, Rakowicz, Maria, Squitieri, Ferdinando, Tibben, Aad, Lee Weille, Katie, Landwehrmeyer, Bernhard, Quarrell, Oliver, Smith, Jonathan A

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Large-scale open-source three-dimensional growth curves for clinical facial assessment and objective description of facial dysmorphism 由 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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Homozygous GDF2 nonsense mutations result in a loss of circulating BMP9 and BMP10 and are associated with either PAH or an “HHT‐like” syndrome in children 由 Hodgson, Joshua, Ruiz‐Llorente, Lidia, McDonald, Jamie, Quarrell, Oliver, Ugonna, Kelechi, Bentham, James, Mason, Rebecca, Martin, Jennifer, Moore, David, Bergstrom, Katie, Bayrak‐Toydemir, Pinar, Wooderchak‐Donahue, Whitney, Morrell, Nicholas W., Condliffe, Robin, Bernabeu, Carmelo, Upton, Paul D.

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Reduced penetrance alleles for Huntington's disease: a multi‐centre direct observational study 由 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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Microcephaly with or without chorioretinopathy, lymphoedema, or mental retardation (MCLMR): review of phenotype associated with KIF11 mutations 由 Jones, Gabriela E, Ostergaard, Pia, Moore, Anthony T, Connell, Fiona C, Williams, Denise, Quarrell, Oliver, Brady, Angela F, Spier, Isabel, Hazan, Filiz, Moldovan, Oana, Wieczorek, Dagmar, Mikat, Barbara, Petit, Florence, Coubes, Christine, Saul, Robert A, Brice, Glen, Gordon, Kristiana, Jeffery, Steve, Mortimer, Peter S, Vasudevan, Pradeep C, Mansour, Sahar

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