1. 45 years' experience with early childhood anatomical technique of feminising genitoplasty for 46 XX Congenital Adrenal Hyperplasia –observations of vaginal introital anatomy and its relationship to the perineal body. Issue 5 (October 2022) Authors: Hennayake, Supul; Barnes, Abigail; Mariotto, Arianna; Goyal, Anju; Ajao, Akinlabi; Cserni, Tamas; Busby, Gail; Patel, Leena; Skae, Mars; Nicholson, Jacqueline; Bianchi, Adrian Journal: Journal of pediatric urology Issue: Volume 18:Issue 5(2022) Page Start: 611.e1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. A case of diencephalic syndrome presenting with isolated lipodystrophy. Issue 4 (October 2018) Authors: McDermott, John H.; Harris, Julie; Fédée, Joanne; Skae, Mars; Semple, Robert; Douzgou, Sofia Journal: Clinical dysmorphology Issue: Volume 27:Issue 4(2018:Oct.) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Catherine Margaret Hall. (31st January 2011) Authors: Kendall, D L; Skae, Mars Journal: BMJ Issue: Volume 342(2011) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Central venous catheter-associated thrombosis in children with congenital hyperinsulinism. (9th July 2019) Authors: Yau, Daphne; Salomon-Estebanez, Maria; Chinoy, Amish; Grainger, John; Craigie, Ross J; Padidela, Raja; Skae, Mars; Dunne, Mark J; Murray, Philip G; Banerjee, Indraneel Journal: Endocrinology, diabetes & metabolism case reports Issue: (2019) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Conservatively treated Congenital Hyperinsulinism (CHI) due to K-ATP channel gene mutations: reducing severity over time. Issue 1 (December 2016) Authors: Salomon-Estebanez, Maria; Flanagan, Sarah; Ellard, Sian; Rigby, Lindsey; Bowden, Louise; Mohamed, Zainab; Nicholson, Jacqueline; Skae, Mars; Hall, Caroline; Craigie, Ross; Padidela, Raja; Murphy, Nuala; Randell, Tabitha; Cosgrove, Karen; Dunne, Mark; Banerjee, Indraneel Journal: Orphanet journal of rare diseases Issue: Volume 11:Issue 1(2016) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Developing pathways to clarify pathogenicity of unclassified variants in Osteogenesis Imperfecta genetic analysis. Issue 12 (30th September 2019) Authors: Balasubramanian, Meena; Hobson, Emma; Skae, Mars; McCaughey, Janine; Stephens, David J. Journal: Molecular genetics & genomic medicine Issue: Volume 7:Issue 12(2019) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Endocrinopathies in Aicardi Goutières syndrome—A descriptive case series. Issue 11 (23rd July 2020) Authors: Worth, Chris; Briggs, Tracy A; Padidela, Raja; Balmer, Eleanor; Skae, Mars Journal: Clinical case reports Issue: Volume 8:Issue 11(2020) Page Start: 2181 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Enhanced Islet Cell Nucleomegaly Defines Diffuse Congenital Hyperinsulinism in Infancy but Not Other Forms of the Disease. Issue 6 (22nd June 2016) Authors: Han, Bing; Newbould, Melanie; Batra, Gauri; Cheesman, Edmund; Craigie, Ross J.; Mohamed, Zainab; Rigby, Lindsey; Padidela, Raja; Skae, Mars; Mironov, Aleksandr; Starborg, Tobias; Kadler, Karl E.; Cosgrove, Karen E.; Banerjee, Indraneel; Dunne, Mark J. Journal: American journal of clinical pathology Issue: Volume 145:Issue 6(2016) Page Start: 757 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Hormone supplementation for pubertal induction in girls. Issue 10 (26th April 2017) Authors: Matthews, Debbie; Bath, Louise; Högler, Wolfgang; Mason, Avril; Smyth, Arlene; Skae, Mars Journal: Archives of disease in childhood Issue: Volume 102:Issue 10(2017) Page Start: 975 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Infigratinib in children with achondroplasia: the PROPEL and PROPEL 2 studies. (March 2022) Authors: Savarirayan, Ravi; De Bergua, Josep Maria; Arundel, Paul; McDevitt, Helen; Cormier-Daire, Valerie; Saraff, Vrinda; Skae, Mars; Delgado, Borja; Leiva-Gea, Antonio; Santos-Simarro, Fernando; Salles, Jean Pierre; Nicolino, Marc; Rossi, Massimiliano; Kannu, Peter; Bober, Michael B.; Phillips, John; S... Journal: Therapeutic advances in musculoskeletal disease Issue: Volume 14(2022) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗