Managing juvenile Huntington’s disease

द्वारा Quarrell, Oliver W. J., Nance, Martha A., Nopoulos, Peggy, Paulsen, Jane S., Smith, Jonathan A., Squitieri, Ferdinando
प्रकाशित 2013

22 Years of predictive testing for Huntington's disease: the experience of the UK Huntington's Prediction Consortium

द्वारा Baig, Sheharyar S, Strong, Mark, Rosser, Elisabeth, Taverner, Nicola V, Glew, Ruth, Miedzybrodzka, Zosia, Clarke, Angus, Craufurd, David, Quarrell, Oliver W
में प्रकाशित Eur J Hum Genet (2016)

Discrepancies in reporting the CAG repeat lengths for Huntington's disease

द्वारा Quarrell, Oliver W, Handley, Olivia, O'Donovan, Kirsty, Dumoulin, Christine, Ramos-Arroyo, Maria, Biunno, Ida, Bauer, Peter, Kline, Margaret, Landwehrmeyer, G Bernhard
प्रकाशित 2012

22 Years of predictive testing for Huntington's disease: the experience of the UK Huntington's Prediction Consortium

द्वारा 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
में प्रकाशित Eur J Hum Genet (2016)

A hypomorphic allele of SLC35D1 results in Schneckenbecken-like dysplasia

द्वारा 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
में प्रकाशित Hum Mol Genet (2019)

Large-scale open-source three-dimensional growth curves for clinical facial assessment and objective description of facial dysmorphism

द्वारा 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.
में प्रकाशित Sci Rep (2021)

Reduced penetrance alleles for Huntington's disease: a multi‐centre direct observational study

द्वारा 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
प्रकाशित 2007

Temtamy Preaxial Brachydactyly Syndrome Is Caused by Loss-of-Function Mutations in Chondroitin Synthase 1, a Potential Target of BMP Signaling

द्वारा 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
प्रकाशित 2010

Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study

द्वारा 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
में प्रकाशित Lancet (2019)