1. Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1. (16th January 2015) Authors: Crow, Yanick J.; Chase, Diana S.; Lowenstein Schmidt, Johanna; Szynkiewicz, Marcin; Forte, Gabriella M.A.; Gornall, Hannah L.; Oojageer, Anthony; Anderson, Beverley; Pizzino, Amy; Helman, Guy; Abdel‐Hamid, Mohamed S.; Abdel‐Salam, Ghada M.; Ackroyd, Sam; Aeby, Alec; Agosta, Guillermo; Albin, Cath... Journal: American journal of medical genetics Issue: Volume 167:Number 2(2015:Feb.) Page Start: 296 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Evaluation of the child with syncope. Issue 5 (May 2016) Authors: Parker, Gabrielle; Thakker, Pradip; Whitehouse, William P. Journal: Paediatrics and child health Issue: Volume 26:Issue 5(2016) Page Start: 219 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Genotype, extrapyramidal features, and severity of variant ataxia‐telangiectasia. Issue 2 (29th January 2019) Authors: Schon, Katherine; van Os, Nienke J.H.; Oscroft, Nicholas; Baxendale, Helen; Scoffings, Daniel; Ray, Julian; Suri, Mohnish; Whitehouse, William P.; Mehta, Puja R.; Everett, Natasha; Bottolo, Leonardo; van de Warrenburg, Bart P.; Byrd, Philip J.; Weemaes, Corry; Willemsen, Michel A.; Tischkowitz, M... Journal: Annals of neurology Issue: Volume 85:Issue 2(2019) Page Start: 170 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Heterozygous truncation mutations of the SMC1A gene cause a severe early onset epilepsy with cluster seizures in females: Detailed phenotyping of 10 new cases. (6th February 2017) Authors: Symonds, Joseph D.; Joss, Shelagh; Metcalfe, Kay A.; Somarathi, Suresh; Cruden, Jamie; Devlin, Anita M.; Donaldson, Alan; DiDonato, Nataliya; Fitzpatrick, David; Kaiser, Frank J.; Lampe, Anne K.; Lees, Melissa M.; McLellan, Ailsa; Montgomery, Tara; Mundada, Vivek; Nairn, Lesley; Sarkar, Ajoy; Sch... Journal: Epilepsia Issue: Volume 58:issue 4(2017) Page Start: 565 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Quality of life and neurological disability in children and young people with ataxia telangiectasia. (September 2022) Authors: McGlashan, Hannah L.; Blanchard, Caroline V.; Luscombe, Celia; Prasad, Manish; Chow, Gabriel; Auer, Dorothee P.; Whitehouse, William P.; Dineen, Rob A. Journal: European journal of paediatric neurology Issue: Volume 40(2022) Page Start: 34 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Relapse after treatment withdrawal of antiepileptic drugs for Juvenile Absence Epilepsy and Juvenile Myoclonic Epilepsy. (July 2018) Authors: Healy, Liam; Moran, Maria; Singhal, Sumeet; O'Donoghue, Michael F.; Alzoubidi, Rania; Whitehouse, William P. Journal: Seizure Issue: Volume 59(2018) Page Start: 116 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Safety of antiepileptic drugs in children and young people: A prospective cohort study. (March 2018) Authors: Egunsola, Oluwaseun; Choonara, Imti; Sammons, Helen M.; Whitehouse, William P. Journal: Seizure Issue: Volume 56(2018) Page Start: 20 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Seizure characteristics and the use of anti-epileptic drugs in children and young people with brain tumours and epileptic seizures: Analysis of regional paediatric cancer service population. (May 2018) Authors: Pilotto, Chiara; Liu, Jo-Fen; Walker, David A.; Whitehouse, William P. Journal: Seizure Issue: Volume 58(2018) Page Start: 17 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Seven‐Tesla Magnetization Transfer Imaging to Detect Multiple Sclerosis White Matter Lesions. Issue 2 (25th September 2017) Authors: Chou, I‐Jun; Lim, Su‐Yin; Tanasescu, Radu; Al‐Radaideh, Ali; Mougin, Olivier E.; Tench, Christopher R.; Whitehouse, William P.; Gowland, Penny A.; Constantinescu, Cris S. Journal: Journal of neuroimaging Issue: Volume 28:Issue 2(2018) Page Start: 183 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗