1. Natural history of KBG syndrome in a large European cohort. Issue 24 (21st July 2022) Authors: Loberti, Lorenzo; Bruno, Lucia Pia; Granata, Stefania; Doddato, Gabriella; Resciniti, Sara; Fava, Francesca; Carullo, Michele; Rahikkala, Elisa; Jouret, Guillaume; Menke, Leonie A; Lederer, Damien; Vrielynck, Pascal; Ryba, Lukáš; Brunetti-Pierri, Nicola; Lasa-Aranzasti, Amaia; Cueto-González, Ann... Journal: Human molecular genetics Issue: Volume 31:Issue 24(2022) Page Start: 4131 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Zimmermann–Laband syndrome in monozygotic twins with a mild neurobehavioral phenotype lacking gingival overgrowth—A case report of a novel KCNN3 gene variant. Issue 4 (14th December 2021) Authors: Schwarz, Martin; Ryba, Lukáš; Křepelová, Anna; Moslerová, Veronika; Zelinová, Michaela; Turnovec, Marek; Martinková, Júlia; Kratochvílová, Lenka; Drahanský, Martin; Macek, Milan; Havlovicová, Markéta Journal: American journal of medical genetics Issue: Volume 188:Issue 4(2022) Page Start: 1083 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗