1. Clinical and molecular features of 66 patients with musculocontractural Ehlers−Danlos syndrome caused by pathogenic variants in CHST14 (mcEDS-CHST14). Issue 9 (23rd November 2021) Authors: Minatogawa, Mari; Unzaki, Ai; Morisaki, Hiroko; Syx, Delfien; Sonoda, Tohru; Janecke, Andreas R; Slavotinek, Anne; Voermans, Nicol C; Lacassie, Yves; Mendoza-Londono, Roberto; Wierenga, Klaas J; Jayakar, Parul; Gahl, William A; Tifft, Cynthia J; Figuera, Luis E; Hilhorst-Hofstee, Yvonne; Maugeri,... Journal: Journal of medical genetics Issue: Volume 59:Issue 9(2022) Page Start: 865 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Clinical and molecular features of 66 patients with musculocontractural Ehlers−Danlos syndrome caused by pathogenic variants in CHST14 (mcEDS-CHST14). Issue 9 (23rd November 2021) Authors: Minatogawa, Mari; Unzaki, Ai; Morisaki, Hiroko; Syx, Delfien; Sonoda, Tohru; Janecke, Andreas R; Slavotinek, Anne; Voermans, Nicol C; Lacassie, Yves; Mendoza-Londono, Roberto; Wierenga, Klaas J; Jayakar, Parul; Gahl, William A; Tifft, Cynthia J; Figuera, Luis E; Hilhorst-Hofstee, Yvonne; Maugeri,... Journal: Journal of medical genetics Issue: Volume 59:Issue 9(2022) Page Start: 865 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Congenital secretory diarrhoea caused by activating germline mutations in GUCY2C. Issue 8 (20th May 2015) Authors: Müller, Thomas; Rasool, Insha; Heinz-Erian, Peter; Mildenberger, Eva; Hülstrunk, Christian; Müller, Andreas; Michaud, Laurent; Koot, Bart G P; Ballauff, Antje; Vodopiutz, Julia; Rosipal, Stefan; Petersen, Britt-Sabina; Franke, Andre; Fuchs, Irene; Witt, Heiko; Zoller, Heinz; Janecke, Andreas R; V... Journal: Gut Issue: Volume 65:Issue 8(2016) Page Start: 1306 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. High incidence of recurrent copy number variants in patients with isolated and syndromic Müllerian aplasia. Issue 3 (28th January 2011) Authors: Nik-Zainal, Serena; Strick, Reiner; Storer, Mekayla; Huang, Ni; Rad, Roland; Willatt, Lionel; Fitzgerald, Tomas; Martin, Vicki; Sandford, Richard; Carter, Nigel P; Janecke, Andreas R; Renner, Stefan P; Oppelt, Patricia G; Oppelt, Peter; Schulze, Christine; Brucker, Sara; Hurles, Matthew; Beckmann... Journal: Journal of medical genetics Issue: Volume 48:Issue 3(2011) Page Start: 197 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗