1. A case of African tick-bite fever in a returning traveler. (2016) Authors: Hauser, Naomi; Arzomand, Zuhal; Fournier, John; Breen, Catherine; Jamali, Layli; Cossman, Jack; Tandon, Richa Journal: IDCases Issue: Volume 5(2016) Page Start: 78 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. A case of African tick-bite fever in a returning traveler. (2016) Authors: Hauser, Naomi; Arzomand, Zuhal; Fournier, John; Breen, Catherine; Jamali, Layli; Cossman, Jack; Tandon, Richa Journal: IDCases Issue: Volume 5(2016) Page Start: 78 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Atypical late presentation of BPAN in a male: A case report. (March 2019) Authors: Boca, Mihaela; Herwadkar, Amit; Garrard, Kate; Beauchamp, Nicholas; Breen, Catherine; Silverdale, Monty; Kobylecki, Christopher Journal: Parkinsonism & related disorders Issue: Volume 60(2019) Page Start: 184 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Characterising a homozygous two‐exon deletion in UQCRH: comparing human and mouse phenotypes. Issue 12 (8th November 2021) Authors: Vidali, Silvia; Gerlini, Raffaele; Thompson, Kyle; Urquhart, Jill E; Meisterknecht, Jana; Aguilar‐Pimentel, Juan Antonio; Amarie, Oana V; Becker, Lore; Breen, Catherine; Calzada‐Wack, Julia; Chhabra, Nirav F; Cho, Yi‐Li; da Silva‐Buttkus, Patricia; Feichtinger, René G; Gampe, Kristine; Garrett, L... Journal: EMBO molecular medicine Issue: Volume 13:Issue 12(2021) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Clinical effect and safety profile of recombinant human lysosomal acid lipase in patients With cholesteryl ester storage disease. Issue 3 (28th March 2013) Authors: Balwani, Manisha; Breen, Catherine; Enns, Gregory M.; Deegan, Patrick B.; Honzík, Tomas; Jones, Simon; Kane, John P.; Malinova, Vera; Sharma, Reena; Stock, Eveline O.; Valayannopoulos, Vassili; Wraith, J. Edmond; Burg, Jennifer; Eckert, Stephen; Schneider, Eugene; Quinn, Anthony G. Journal: Hepatology Issue: Volume 58:Issue 3(2013:Sep.) Page Start: 950 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Diagnosing fetal alcohol syndrome: new insights from newer genetic technologies. Issue 9 (14th July 2012) Authors: Douzgou, Sofia; Breen, Catherine; Crow, Yanick J; Chandler, Kate; Metcalfe, Kay; Jones, Elizabeth; Kerr, Bronwyn; Clayton-Smith, Jill Journal: Archives of disease in childhood Issue: Volume 97:Issue 9(2012) Page Start: 812 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Genotype–phenotype specificity in Menke–Hennekam syndrome caused by missense variants in exon 30 or 31 of CREBBP. Issue 6 (20th March 2019) Authors: Banka, Siddharth; Sayer, Rebecca; Breen, Catherine; Barton, Stephanie; Pavaine, Julija; Sheppard, Sarah E.; Bedoukian, Emma; Skraban, Cara; Cuddapah, Vishnu A; Clayton‐Smith, Jill Journal: American journal of medical genetics Issue: Volume 179:Issue 6(2019) Page Start: 1058 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. High dose genistein in Sanfilippo syndrome: A randomised controlled trial. Issue 5 (13th June 2021) Authors: Ghosh, Arunabha; Rust, Stewart; Langford‐Smith, Kia; Weisberg, Daniel; Canal, Maria; Breen, Catherine; Hepburn, Michelle; Tylee, Karen; Vaz, Frédéric M.; Vail, Andy; Wijburg, Frits; O'Leary, Claire; Parker, Helen; Wraith, J. Ed; Bigger, Brian W.; Jones, Simon A. Journal: Journal of inherited metabolic disease Issue: Volume 44:Issue 5(2021) Page Start: 1248 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Irbesartan in Marfan syndrome (AIMS): a double-blind, placebo-controlled randomised trial. Issue 10216 (21st December 2019) Authors: Mullen, Michael; Jin, Xu Yu; Child, Anne; Stuart, A Graham; Dodd, Matthew; Aragon-Martin, José Antonio; Gaze, David; Kiotsekoglou, Anatoli; Yuan, Li; Hu, Jiangting; Foley, Claire; Van Dyck, Laura; Knight, Rosemary; Clayton, Tim; Swan, Lorna; Thomson, John D R; Erdem, Guliz; Crossman, David; Flath... Journal: Lancet Issue: Volume 394:Issue 10216(2019) Page Start: 2263 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. MOC-31 Antibody Immunolabeling During Mohs Surgery. Issue 6 (5th June 2022) Authors: Bae, Edward; Saap, Liliana; Breen, Catherine; Iwamoto, Satori Journal: Dermatologic surgery Issue: Volume 48:Issue 6(2022) Page Start: 595 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗