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. Human COQ4 deficiency: delineating the clinical, metabolic and neuroimaging phenotypes. Issue 9 (16th October 2021) Authors: Laugwitz, Lucia; Seibt, Annette; Herebian, Diran; Peralta, Susana; Kienzle, Imke; Buchert, Rebecca; Falb, Ruth; Gauck, Darja; Müller, Amelie; Grimmel, Mona; Beck-Woedel, Stefanie; Kern, Jan; Daliri, Karim; Katibeh, Pegah; Danhauser, Katharina; Leiz, Steffen; Alesi, Viola; Baertling, Fabian; Vasco... Journal: Journal of medical genetics Issue: Volume 59:Issue 9(2022) Page Start: 878 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Human COQ4 deficiency: delineating the clinical, metabolic and neuroimaging phenotypes. Issue 9 (16th October 2021) Authors: Laugwitz, Lucia; Seibt, Annette; Herebian, Diran; Peralta, Susana; Kienzle, Imke; Buchert, Rebecca; Falb, Ruth; Gauck, Darja; Müller, Amelie; Grimmel, Mona; Beck-Woedel, Stefanie; Kern, Jan; Daliri, Karim; Katibeh, Pegah; Danhauser, Katharina; Leiz, Steffen; Alesi, Viola; Baertling, Fabian; Vasco... Journal: Journal of medical genetics Issue: Volume 59:Issue 9(2022) Page Start: 878 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗