1. A molecular and clinical study of Larsen syndrome caused by mutations in FLNB. Issue 2 (26th June 2006) Authors: Bicknell, Louise S; Farrington-Rock, Claire; Shafeghati, Yousef; Rump, Patrick; Alanay, Yasemin; Alembik, Yves; Al-Madani, Navid; Firth, Helen; Karimi-Nejad, Mohammad Hassan; Kim, Chong Ae; Leask, Kathryn; Maisenbacher, Melissa; Moran, Ellen; Pappas, John G; Prontera, Paolo; de Ravel, Thomy; Fryn... Journal: Journal of medical genetics Issue: Volume 44:Issue 2(2007) Page Start: 89 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Autism, language and communication in children with sex chromosome trisomies. Issue 10 (23rd July 2010) Authors: Bishop, Dorothy V M; Jacobs, Patricia A; Lachlan, Katherine; Wellesley, Diana; Barnicoat, Angela; Boyd, Patricia A; Fryer, Alan; Middlemiss, Prisca; Smithson, Sarah; Metcalfe, Kay; Shears, Deborah; Leggett, Victoria; Nation, Kate; Scerif, Gaia Journal: Archives of disease in childhood Issue: Volume 96:Issue 10(2011) Page Start: 954 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Clinical and genetic aspects of KBG syndrome. Issue 11 (26th September 2016) Authors: Low, Karen; Ashraf, Tazeen; Canham, Natalie; Clayton‐Smith, Jill; Deshpande, Charu; Donaldson, Alan; Fisher, Richard; Flinter, Frances; Foulds, Nicola; Fryer, Alan; Gibson, Kate; Hayes, Ian; Hills, Alison; Holder, Susan; Irving, Melita; Joss, Shelagh; Kivuva, Emma; Lachlan, Kathryn; Magee, Alex; ... Journal: American journal of medical genetics Issue: Volume 170:Issue 11(2016) Page Start: 2835 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. 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) ↗
5. 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) ↗
6. Connecting with connexins. (28th June 2013) Authors: Williams, Penelope; Memon, Aamir; Sinha, Tapati; Fryer, Alan Journal: Australasian journal of dermatology Issue: Volume 54:Number 4(2013:Nov.) Page Start: 287 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. De Novo Heterozygous Mutations in SMC3 Cause a Range of Cornelia de Lange Syndrome‐Overlapping Phenotypes. Issue 4 (17th March 2015) Authors: Gil‐Rodríguez, María Concepción; Deardorff, Matthew A.; Ansari, Morad; Tan, Christopher A.; Parenti, Ilaria; Baquero‐Montoya, Carolina; Ousager, Lilian B.; Puisac, Beatriz; Hernández‐Marcos, María; Teresa‐Rodrigo, María Esperanza; Marcos‐Alcalde, Iñigo; Wesselink, Jan‐Jaap; Lusa‐Bernal, Silvia; B... Journal: Human mutation Issue: Volume 36:Issue 4(2015:Apr.) Page Start: 454 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Diagnosis of lethal or prenatal‐onset autosomal recessive disorders by parental exome sequencing. (3rd December 2017) Authors: Stals, Karen L.; Wakeling, Matthew; Baptista, Júlia; Caswell, Richard; Parrish, Andrew; Rankin, Julia; Tysoe, Carolyn; Jones, Garan; Gunning, Adam C.; Lango Allen, Hana; Bradley, Lisa; Brady, Angela F.; Carley, Helena; Carmichael, Jenny; Castle, Bruce; Cilliers, Deirdre; Cox, Helen; Deshpande, Ch... Journal: Prenatal diagnosis Issue: Volume 38:Number 1(2018) Page Start: 33 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. 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) ↗
10. Genetics. Issue 833 (March 1995) Authors: Fryer, Alan Journal: Postgraduate medical journal Issue: Volume 71:Issue 833(1995) Page Start: 190 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗