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. Common genetic variants contribute to risk of rare severe neurodevelopmental disorders. (11th October 2018) Authors: Niemi, Mari; Martin, Hilary; Rice, Daniel; Gallone, Giuseppe; Gordon, Scott; Kelemen, Martin; McAloney, Kerrie; McRae, Jeremy; Radford, Elizabeth; Yu, Sui; Gecz, Jozef; Martin, Nicholas; Wright, Caroline; Fitzpatrick, David; Firth, Helen; Hurles, Matthew; Barrett, Jeffrey Journal: Nature Issue: Volume 562:Number 7726(2018) Page Start: 268 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. CONGENITAL ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM. (1st March 2003) Authors: Verity, Christopher; Firth, Helen; ffrench-Constant, Charles Journal: Journal of neurology, neurosurgery and psychiatry Issue: Volume 74(2003)Supplement 1 Page Start: i3 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Congenital Limb Deficiencies in Hungary. Genetic and Teratologic Epidemiological Studies. Issue 2 (February 1996) Authors: Firth, Helen Journal: Journal of medical genetics Issue: Volume 33:Issue 2(1996) Page Start: 175 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Extreme Growth Failure is a Common Presentation of Ligase IV Deficiency. Issue 1 (8th November 2013) Authors: Murray, Jennie E.; Bicknell, Louise S.; Yigit, Gökhan; Duker, Angela L.; van, Margriet; Haghayegh, Sara; Wieczorek, Dagmar; Kayserili, Hülya; Albert, Michael H.; Wise, Carol A.; Brandon, January; Kleefstra, Tjitske; Warris, Adilia; van der, Michiel; Bamforth, J. Steven; Doonanco, Kurston; Adès, L... Journal: Human mutation Issue: Volume 35:Issue 1(2014:Jan.) Page Start: 76 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Making new genetic diagnoses with old data: iterative reanalysis and reporting from genome-wide data in 1, 133 families with developmental disorders. (October 2018) Authors: Wright, Caroline; McRae, Jeremy; Clayton, Stephen; Gallone, Giuseppe; Aitken, Stuart; FitzGerald, Tomas; Jones, Philip; Prigmore, Elena; Rajan, Diana; Lord, Jenny; Sifrim, Alejandro; Kelsell, Rosemary; Parker, Michael; Barrett, Jeffrey; Hurles, Matthew; FitzPatrick, David; Firth, Helen Journal: Genetics in medicine Issue: Volume 20:Number 10(2018) Page Start: 1216 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Phenotypic Characterization of EIF2AK4 Mutation Carriers in a Large Cohort of Patients Diagnosed Clinically With Pulmonary Arterial Hypertension. Issue 21 (21st November 2017) Authors: Hadinnapola, Charaka; Bleda, Marta; Haimel, Matthias; Screaton, Nicholas; Swift, Andrew; Dorfmüller, Peter; Preston, Stephen D.; Southwood, Mark; Hernandez-Sanchez, Jules; Martin, Jennifer; Treacy, Carmen; Yates, Katherine; Bogaard, Harm; Church, Colin; Coghlan, Gerry; Condliffe, Robin; Corris, P... Journal: Circulation Issue: Volume 136:Issue 21(2017) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Recurrent posterior fossa group A (PFA) ependymoma in a young child with constitutional mismatch repair deficiency (CMMRD). Issue 1 (18th November 2022) Authors: Briggs, Mayen; Das, Anirban; Firth, Helen; Levine, Adrian; Sánchez‐Ramírez, Santiago; Negm, Logine; Ercan, Ayse B.; Chung, Jill; Bianchi, Vanessa; Jalloh, Ibrahim; Phyu, Poe; Thorp, Nicky; Grundy, Richard G.; Hawkins, Cynthia; Trotman, Jamie; Tarpey, Patrick; Tabori, Uri; Allinson, Kieren; Murray... Journal: Neuropathology & applied neurobiology Issue: Volume 49:Issue 1(2023) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Registered access: authorizing data access. (December 2018) Authors: Dyke, Stephanie; Linden, Mikael; Lappalainen, Ilkka; Argila, Jordi; Carey, Knox; Lloyd, David; Spalding, J.; Cabili, Moran; Kerry, Giselle; Foreman, Julia; Cutts, Tim; Shabani, Mahsa; Rodriguez, Laura; Haeussler, Maximilian; Walsh, Brian; Jiang, Xiaoqian; Wang, Shuang; Perrett, Daniel; Boughtwood... Journal: European journal of human genetics Issue: Volume 26:Number 12(2018) Page Start: 1721 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Side effects of benoxaprofen. Issue 6331 (12th June 1982) Authors: Firth, Helen; Wilcock, G K; Esiri, Margaret Journal: BMJ Issue: Volume 284:Issue 6331(1982) Page Start: 1784 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗