1. 'You don't get told anything, they don't do anything and nothing changes'. Medicine as a resource and constraint in progressive ataxia. (24th October 2012) Authors: Daker‐White, Gavin; Kingston, Helen; Payne, Katherine; Greenfield, Julie; Ealing, John; Sanders, Caroline Journal: Health expectations Issue: Volume 18:Number 2(2015:Jun.) Page Start: 177 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Coffin–Siris Syndrome and the BAF Complex: Genotype–Phenotype Study in 63 Patients. Issue 11 (30th August 2013) Authors: Santen, Gijs W.E.; Aten, Emmelien; Vulto‐van Silfhout, Anneke T.; Pottinger, Caroline; van Bon, Bregje W.M.; van Minderhout, Ivonne J.H.M.; Snowdowne, Ronelle; van der Lans, Christian A.C.; Boogaard, Merel; Linssen, Margot M.L.; Vijfhuizen, Linda; van der Wielen, Michiel J.R.; Vollebregt, M.J. (E... Journal: Human mutation Issue: Volume 34:Issue 11(2013:Nov.) Page Start: 1519 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Coffin–Siris Syndrome and the BAF Complex: Genotype–Phenotype Study in 63 Patients. Issue 11 (30th August 2013) Authors: Santen, Gijs W.E.; Aten, Emmelien; Vulto‐van Silfhout, Anneke T.; Pottinger, Caroline; van, Bregje W.M.; van, Ivonne J.H.M.; Snowdowne, Ronelle; van der, Christian A.C.; Boogaard, Merel; Linssen, Margot M.L.; Vijfhuizen, Linda; van der, Michiel J.R.; Vollebregt, M.J. (Ellen); Breuning, Martijn H.... Journal: Human mutation Issue: Volume 34:Issue 11(2013:Nov.) Page Start: 1519 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Familial childhood-onset progressive cerebellar syndrome associated with the ATP1A3 mutation. (April 2017) Authors: Jaffer, Fatima; Fawcett, Katherine; Sims, David; Heger, Andreas; Houlden, Henry; Hanna, Michael G.; Kingston, Helen; Sisodiya, Sanjay M. Journal: Neurology Issue: Volume 3:Number 2(2017) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism. Issue 10 (14th August 2014) Authors: Ansari, Morad; Poke, Gemma; Ferry, Quentin; Williamson, Kathleen; Aldridge, Roland; Meynert, Alison M; Bengani, Hemant; Chan, Cheng Yee; Kayserili, Hülya; Avci, Şahin; Hennekam, Raoul C M; Lampe, Anne K; Redeker, Egbert; Homfray, Tessa; Ross, Alison; Falkenberg Smeland, Marie; Mansour, Sahar; Par... Journal: Journal of medical genetics Issue: Volume 51:Issue 10(2014) Page Start: 659 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Leri's pleonosteosis, a congenital rheumatic disease, results from microduplication at 8q22.1 encompassing GDF6 and SDC2 and provides insight into systemic sclerosis pathogenesis. Issue 6 (17th January 2014) Authors: Banka, Siddharth; Cain, Stuart A; Carim, Sabrya; Daly, Sarah B; Urquhart, Jill E; Erdem, Günhan; Harris, Jade; Bottomley, Michelle; Donnai, Dian; Kerr, Bronwyn; Kingston, Helen; Superti-Furga, Andreas; Unger, Sheila; Ennis, Holly; Worthington, Jane; Herrick, Ariane L; Merry, Catherine L R; Yue, W... Journal: Annals of the rheumatic diseases Issue: Volume 74:Issue 6(2015) Page Start: 1249 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Medical Law. (2015) Authors: Robson, Michelle; Swift, Kristina; Fyall, Carolyn; Kingston, Helen Record Type: Book Extent: 1 online resource View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Medical law. (2015) Authors: Robson, Michelle; Swift, Kristina; Kingston, Helen; Fyall, Carolyn Record Type: Book Extent: 1 online resource (296 pages) View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Medical law. (2015) Authors: Robson, Michelle; Swift, Kristina; Kingston, Helen; Fyall, Carolyn Record Type: Book Extent: 1 online resource (296 pages) View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. ORAI1 Mutations with Distinct Channel Gating Defects in Tubular Aggregate Myopathy. Issue 4 (2nd February 2017) Authors: Böhm, Johann; Bulla, Monica; Urquhart, Jill E.; Malfatti, Edoardo; Williams, Simon G.; O'Sullivan, James; Szlauer, Anastazja; Koch, Catherine; Baranello, Giovanni; Mora, Marina; Ripolone, Michela; Violano, Raffaella; Moggio, Maurizio; Kingston, Helen; Dawson, Timothy; DeGoede, Christian G.; Nixon... Journal: Human mutation Issue: Volume 38:Issue 4(2017) Page Start: 426 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗