1. A proximal 300kb deletion further defining critical regions in 4q25 syndrome. Issue 3 (19th May 2021) Authors: Hegarty, Mairead; Morrison, Patrick J. Journal: Clinical dysmorphology Issue: Volume 30:Issue 3(2021) Page Start: 137 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Ameliorating the age at onset and disease progression in Huntington disease. (12th June 2018) Authors: Morrison, Patrick J.; Delatycki, Martin B. Journal: Neurology Issue: Volume 90:Number 24(2018) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Aplasia Cutis Congenita with Ischemic Cortical Change and Normal Array Cytogenetic Analysis with a Fetus Papyraceus Twin. (4th July 2018) Authors: Skillen, Laura A.; Gates, Damien; Collins, Julie-Ann; Saxena, Nivedita; Hurrell, Daniel; McKenna, Kevin; Morrison, Patrick J. Journal: Fetal and pediatric pathology Issue: Volume 37:Number 4(2018) Page Start: 276 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Arytenoid neuromas are a recognized feature of SOS1 mutations causing pure mucosal neuroma syndrome. Issue 1 (January 2018) Authors: Leyden, Peter J.; Morrison, Patrick J. Journal: Clinical dysmorphology Issue: Volume 27:Issue 1(2018:Jan.) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Characterization of renal cell carcinoma‐associated constitutional chromosome abnormalities by genome sequencing. Issue 6 (5th February 2020) Authors: Smith, Philip S.; Whitworth, James; West, Hannah; Cook, Jacqueline; Gardiner, Carol; Lim, Derek H. K.; Morrison, Patrick J.; Hislop, R. Gordon; Murray, Emily; Tischkowitz, Marc; Warren, Anne Y.; Woodward, Emma R.; Maher, Eamonn R. Journal: Genes, chromosomes & cancer Issue: Volume 59:Issue 6(2020) Page Start: 333 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Epidemiology, Clinical Features, and Genetics of Multiple Endocrine Neoplasia Type 2B in a Complete Population. (29th October 2014) Authors: Znaczko, Anna; Donnelly, Deirdre E.; Morrison, Patrick J. Journal: Oncologist Issue: Volume 19:Number 12(2014) Page Start: 1284 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Evaluation of SDHB, SDHD and VHL gene susceptibility testing in the assessment of individuals with non‐syndromic phaeochromocytoma, paraganglioma and head and neck paraganglioma. (6th April 2013) Authors: Jafri, Mariam; Whitworth, James; Rattenberry, Eleanor; Vialard, Lindsey; Kilby, Gail; Kumar, Ajith V.; Izatt, Louise; Lalloo, Fiona; Brennan, Paul; Cook, Jackie; Morrison, Patrick J.; Canham, Natalie; Armstrong, Ruth; Brewer, Carole; Tomkins, Susan; Donaldson, Alan; Barwell, Julian; Cole, Trevor ... Journal: Clinical endocrinology Issue: Volume 78:Number 6(2013:Jun.) Page Start: 898 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Expanding the genotypic and phenotypic spectrum of severe serine biosynthesis disorders. Issue 9 (15th July 2020) Authors: Abdelfattah, Fatima; Kariminejad, Ariana; Kahlert, Anne‐Karin; Morrison, Patrick J.; Gumus, Evren; Mathews, Katherine D.; Darbro, Benjamin W.; Amor, David J.; Walsh, Maie; Sznajer, Yves; Weiß, Luisa; Weidensee, Sabine; Chitayat, David; Shannon, Patrick; Bermejo‐Sánchez, Eva; Riaño‐Galán, Isolina;... Journal: Human mutation Issue: Volume 41:Issue 9(2020) Page Start: 1615 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Genetic defects are common in myopathies with tubular aggregates. Issue 1 (15th December 2021) Authors: Gang, Qiang; Bettencourt, Conceição; Brady, Stefen; Holton, Janice L.; Healy, Estelle G.; McConville, John; Morrison, Patrick J.; Ripolone, Michela; Violano, Raffaella; Sciacco, Monica; Moggio, Maurizio; Mora, Marina; Mantegazza, Renato; Zanotti, Simona; Wang, Zhaoxia; Yuan, Yun; Liu, Wei‐wei; Be... Journal: Annals of clinical and translational neurology Issue: Volume 9:Issue 1(2022) Page Start: 4 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Incidence, puberty, and fertility in 45, X/47, XXX mosaicism: Report of a patient and a literature review. Issue 4 (1st February 2018) Authors: Martin, Richard J.; Smith, Geoff; Hughes, James; Morrison, Patrick J. Journal: American journal of medical genetics Issue: Volume 176:Issue 4(2018) Page Start: 1029 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗