1. 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) ↗
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, 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) ↗
3. Cornelia de Lange syndrome due to mosaic NIPBL mutation: antenatal presentation with sacrococcygeal teratoma. (14th August 2015) Authors: Banait, Nishant; Fenton, Alan; Splitt, Miranda Journal: BMJ case reports Issue: Volume 2015 Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Elucidating the genetic architecture of Adams–Oliver syndrome in a large European cohort. Issue 9 (4th July 2018) Authors: Meester, Josephina A.N.; Sukalo, Maja; Schröder, Kim C.; Schanze, Denny; Baynam, Gareth; Borck, Guntram; Bramswig, Nuria C.; Duman, Duygu; Gilbert‐Dussardier, Brigitte; Holder‐Espinasse, Muriel; Itin, Peter; Johnson, Diana S.; Joss, Shelagh; Koillinen, Hannele; McKenzie, Fiona; Morton, Jenny; Nel... Journal: Human mutation Issue: Volume 39:Issue 9(2018) Page Start: 1246 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Expanding the phenotypic spectrum of variants in PDE4D/PRKAR1A: from acrodysostosis to acroscyphodysplasia. (November 2018) Authors: Michot, Caroline; Goff, Carine; Blair, Edward; Blanchet, Patricia; Capri, Yline; Gilbert-Dussardier, Brigitte; Goldenberg, Alice; Henderson, Alex; Isidor, Bertrand; Kayserili, Hulya; Kinning, Esther; Merrer, Martine; Lyonnet, Stanislas; Odent, Sylvie; Simsek-Kiper, Pelin; Quelin, Chloé; Savariray... Journal: European journal of human genetics Issue: Volume 26:Number 11(2018) Page Start: 1611 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Extending the phenotype associated with the CSNK2A1‐related Okur–Chung syndrome—A clinical study of 11 individuals. Issue 5 (31st January 2018) Authors: Owen, Ceris I.; Bowden, Ramsay; Parker, Michael J.; Patterson, Jo; Patterson, Joan; Price, Sue; Sarkar, Ajoy; Castle, Bruce; Deshpande, Charulatha; Splitt, Miranda; Ghali, Neeti; Dean, John; Green, Andrew J.; Crosby, Charlene; Tatton‐Brown, Katrina Journal: American journal of medical genetics Issue: Volume 176:Issue 5(2018) Page Start: 1108 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Fetal hydrops: diagnosis and prognosis. Issue 3 (14th September 2018) Authors: Waring, Gareth J; Splitt, Miranda; Robson, Stephen C Journal: Archives of disease in childhood Issue: Volume 104:Issue 3(2019) Page Start: 209 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Fetal hydrops: diagnosis and prognosis. Issue 3 (19th March 2019) Authors: Waring, Gareth J; Splitt, Miranda; Robson, Stephen C Journal: Archives of disease in childhood Issue: Volume 104:Issue 3(2019) Page Start: 209 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. FHF1 (FGF12) epileptic encephalopathy. (December 2016) Authors: Al-Mehmadi, Sameer; Splitt, Miranda; Ramesh, Venkateswaran; DeBrosse, Suzanne; Dessoffy, Kimberly; Xia, Fan; Yang, Yaping; Rosenfeld, Jill A.; Cossette, Patrick; Michaud, Jacques L.; Hamdan, Fadi F.; Campeau, Philippe M.; Minassian, Berge A.; Barrett, Jeffrey; Hurles, Matthew Journal: Neurology Issue: Volume 2:Number 6(2016) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. 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) ↗