1. De novo missense variants in FBXO11 alter its protein expression and subcellular localization. Issue 3 (9th September 2021) Authors: Gregor, Anne; Meerbrei, Tanja; Gerstner, Thorsten; Toutain, Annick; Lynch, Sally Ann; Stals, Karen; Maxton, Caroline; Lemke, Johannes R; Bernat, John A; Bombei, Hannah M; Foulds, Nicola; Hunt, David; Kuechler, Alma; Beygo, Jasmin; Stöbe, Petra; Bouman, Arjan; Palomares-Bralo, Maria; Santos-Simarr... Journal: Human molecular genetics Issue: Volume 31:Issue 3(2022) Page Start: 440 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. A biallelic truncating AEBP1 variant causes connective tissue disorder in two siblings. Issue 1 (11th December 2018) Authors: Hebebrand, Moritz; Vasileiou, Georgia; Krumbiegel, Mandy; Kraus, Cornelia; Uebe, Steffen; Ekici, Arif B.; Thiel, Christian T.; Reis, André; Popp, Bernt Journal: American journal of medical genetics Issue: Volume 179:Issue 1(2019) Page Start: 50 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗