1. ANO5 Gene Analysis in a Large Cohort of Patients with Anoctaminopathy: Confirmation of Male Prevalence and High Occurrence of the Common Exon 5 Gene Mutation. Issue 8 (12th June 2013) Authors: Sarkozy, Anna; Hicks, Debbie; Hudson, Judith; Laval, Steve H.; Barresi, Rita; Hilton‐Jones, David; Deschauer, Marcus; Harris, Elizabeth; Rufibach, Laura; Hwang, Esther; Bashir, Rumaisa; Walter, Maggie C.; Krause, Sabine; van den, Peter; Illa, Isabel; Pénisson‐Besnier, Isabelle; De, Liesbeth; Turn... Journal: Human mutation Issue: Volume 34:Issue 8(2013:Aug.) Page Start: 1111 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Biallelic DNAJC3 variants in a neuroendocrine developmental disorder with insulin dysregulation. Issue 1 (15th October 2021) Authors: Ocansey, Sharon; Pullen, Debbie; Atkinson, Patricia; Clarke, Antonia; Hadonou, Medard; Crosby, Charlene; Short, John; Lloyd, Ian Christopher; Smedley, Damian; Assunta, Albanese; Shah, Pratik; McEntagart, Meriel Journal: Clinical dysmorphology Issue: Volume 31:Issue 1(2022) Page Start: 11 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Biallelic DNAJC3 variants in a neuroendocrine developmental disorder with insulin dysregulation. Issue 1 (January 2022) Authors: Ocansey, Sharon; Pullen, Debbie; Atkinson, Patricia; Clarke, Antonia; Hadonou, Medard; Crosby, Charlene; Short, John; Lloyd, Ian Christopher; Smedley, Damian; Assunta, Albanese; Shah, Pratik; McEntagart, Meriel Journal: Clinical dysmorphology Issue: Volume 31:Issue 1(2022) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. 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) ↗
5. Clinical and genetic characteristics of late-onset Huntington's disease. (April 2019) Authors: Bachoud-Lévi, Anne-Catherine; Bentivoglio, Anna-Rita; Biunno, Ida; Bonelli, Raphael M.; Bronzova, Juliana; Burgunder, Jean-Marc; Dunnett, Stephen B.; Ferreira, Joaquim J.; Frich, Jan; Giuliano, Joe; Handley, Olivia J.; Heiberg, Arvid; Illarioshkin, Sergey; Illmann, Torsten; Klempir, Jiri; Landweh... Journal: Parkinsonism & related disorders Issue: Volume 61(2019) Page Start: 101 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Distal hereditary motor neuropathy with vocal cord paresis: from difficulty in choral singing to a molecular genetic diagnosis. Issue 3 (19th January 2016) Authors: Ingram, Gillian; Barwick, Katy E S; Hartley, Louise; McEntagart, Meriel; Crosby, Andrew H; Llewelyn, Gareth; Morris, Huw R Journal: Practical neurology Issue: Volume 16:Issue 3(2016) Page Start: 247 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. DISTAL SPINAL MUSCULAR ATROPHY WITH VOCAL PARESIS: FROM THE WELSH CHOIR TO GENES. Issue 11 (9th October 2013) Authors: Ingram, Gillian; Barwick, Katy; McEntagart, Meriel; Crosby, Andrew; Hartley, Louise; Llewelyn, Gareth; Morris, Huw Journal: Journal of neurology, neurosurgery and psychiatry Issue: Volume 84:Issue 11(2013) Page Start: e2 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Further delineation of phenotypic spectrum of SCN2A‐related disorder. Issue 3 (11th December 2021) Authors: Richardson, Ruth; Baralle, Diana; Bennett, Christopher; Briggs, Tracy; Bijlsma, Emilia K.; Clayton‐Smith, Jill; Constantinou, Panayiotis; Foulds, Nicola; Jarvis, Joanna; Jewell, Rosalyn; Johnson, Diana S.; McEntagart, Meriel; Parker, Michael J.; Radley, Jessica A.; Robertson, Lisa; Ruivenkamp, Cl... Journal: American journal of medical genetics Issue: Volume 188:Issue 3(2022) Page Start: 867 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. J8 Two case studies demonstrating transmission of unstable huntington's disease intermediate alleles and the implications for genetic counselling practice. (13th September 2016) Authors: Bailey, Jessica; Lahiri, Nayana; McEntagart, Meriel; Eddy, Charlotte; Crosby, Charlene; Perez-Caballero, Ana; Gibbons, Clare; Meschino, Wendy Journal: Journal of neurology, neurosurgery and psychiatry Issue: Volume 87(2016)Supplement 1 Page Start: A78 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗