1. Autosomal dominant Shwachman–Diamond syndrome with a novel heterozygous missense variant in the SRP54 gene causing severe phenotypic features. (22nd September 2021) Authors: McCarthy, Peter; Cotter, Melanie; Smith, Owen P. Journal: British journal of haematology Issue: Volume 196:Number 3(2022) Page Start: e39 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Catalogue of inherited disorders found among the Irish Traveller population. Issue 4 (22nd January 2018) Authors: Lynch, Sally Ann; Crushell, Ellen; Lambert, Deborah M; Byrne, Niall; Gorman, Kathleen; King, Mary D; Green, Andrew; O'Sullivan, Siobhan; Browne, Fiona; Hughes, Joanne; Knerr, Ina; Monavari, Ahmad A; Cotter, Melanie; McConnell, Vivienne P M; Kerr, Bronwyn; Jones, Simon A; Keenan, Catriona; Murphy,... Journal: Journal of medical genetics Issue: Volume 55:Issue 4(2018) Page Start: 233 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Clinical and genetic characterisation of infantile liver failure syndrome type 1, due to recessive mutations in LARS. Issue 6 (28th April 2015) Authors: Casey, Jillian P.; Slattery, Suzanne; Cotter, Melanie; Monavari, A. A.; Knerr, Ina; Hughes, Joanne; Treacy, Eileen P.; Devaney, Deirdre; McDermott, Michael; Laffan, Eoghan; Wong, Derek; Lynch, Sally Ann; Bourke, Billy; Crushell, Ellen Journal: Journal of inherited metabolic disease Issue: Volume 38:Issue 6(2015) Page Start: 1085 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Coagulation values in extreme premature infants. Issue 8 (August 2014) Authors: Neary, Elaine; Ni Ainle, Fionnuala; Cotter, Melanie; McCallion, Naomi Journal: Transfusion Issue: Volume 54:Issue 8(2014) Page Start: 2134 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Core medical skills training days: streamlining practical and resuscitation skills training in our local health board. (2019) Authors: Pitrola, Dena; Cotter, Melanie; Kumar, Anil; Menon, Govind Journal: Future healthcare journal Issue: Volume 6(2019)Supplement 1 Page Start: s146 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Fontaine progeroid syndrome—A case report. Issue 9 (6th September 2022) Authors: Lally, Sinéad; Walsh, Nicola; Kenny, Janna; Franklin, Orla; Cotter, Melanie; Richardson, Sarah; McEligott, Fiona; Finan, Alan Journal: Clinical case reports Issue: Volume 10:Issue 9(2022) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. GP60 Clinical utility of elevated vitamin B12 levels with a progressively abnormal blood film. (June 2019) Authors: Foley, David; Fitzsimons, Patricia; Malone, Andrea; Borovickova, Ingrid; Cotter, Melanie Journal: Archives of disease in childhood Issue: Volume 104:(2019)Supplement 3 Page Start: A54 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Novel ocular findings and progressive intracranial calcification in a case of Revesz syndrome. (23rd September 2020) Authors: McCaffrey, Jack; Gorman, Kathleen; McDermott, Michael; Farrell, Stephen; Kassab, Ghadir; Cotter, Melanie Journal: British journal of haematology Issue: Volume 191:Number 3(2020) Page Start: 317 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. O16 Using a simulated patient pathway as part of induction to improve trainees' confidence within trauma and orthopaedics. (November 2018) Authors: Broomfield, Rebecca; Measuria, Harshul; Brunning, Christopher; Cotter, Melanie; Carpenter, Clare; Dunne, John Journal: BMJ simulation & technology enhanced learning Issue: Volume 4(2018)Supplement 2 Page Start: A7 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. O19 Using simulation teaching to increase confidence and knowledge in the prevention and management of falls. (November 2018) Authors: Broomfield, Rebecca; Bonello, Helen; Williams, Oliver; Porter, Alicia; Phillips, Megan; Cotter, Melanie Journal: BMJ simulation & technology enhanced learning Issue: Volume 4(2018)Supplement 2 Page Start: A9 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗