1. Copy number variation of two separate regulatory regions upstream of SOX9 causes isolated 46, XY or 46, XX disorder of sex development. Issue 4 (20th January 2015) Authors: Kim, Gwang-Jin; Sock, Elisabeth; Buchberger, Astrid; Just, Walter; Denzer, Friederike; Hoepffner, Wolfgang; German, James; Cole, Trevor; Mann, Jillian; Seguin, John H; Zipf, William; Costigan, Colm; Schmiady, Hardi; Rostásy, Moritz; Kramer, Mildred; Kaltenbach, Simon; Rösler, Bernd; Georg, Ina; T... Journal: Journal of medical genetics Issue: Volume 52:Issue 4(2015) Page Start: 240 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Lack of sensitivity of the 1‐μg low‐dose ACTH stimulation test in a paediatric population with suboptimal cortisol responses to insulin‐induced hypoglycaemia. (11th December 2012) Authors: O'Grady, Michael J.; Hensey, Conor; Fallon, Miriam; Hoey, Hilary; Murphy, Nuala; Costigan, Colm; Cody, Declan Journal: Clinical endocrinology Issue: Volume 78:Number 1(2013:Jan.) Page Start: 73 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. P284 A case of familial cranial diabetes insipidus – it's all in the history. (June 2019) Authors: Conlon, Tracey A; Moloney, Sinead; Costigan, Colm; Murphy, Nuala P Journal: Archives of disease in childhood Issue: Volume 104:(2019)Supplement 3 Page Start: A271 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗