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Author/Creator Turnovec, Marek

1. Expanding the phenotype spectrum associated with pathogenic variants in the COL2A1 and COL11A1 genes. (19th May 2020)

Authors:
Čopíková, Jana; Paděrová, Jana; Románková, Věra; Havlovicová, Markéta; Balaščáková, Miroslava; Zelinová, Michaela; Vejvalková, Šárka; Simandlová, Martina; Štěpánková, Jana; Hořínová, Věra; Kantorová, Eva; Křečková, Gabriela; Pospíšilová, Jana; Boday, Arpád; Meszarosová, Anna Uhrová; Turnovec, Mar...
Journal:
Annals of human genetics
Issue:
Volume 84:Number 5(2020:Sep.)
Page Start:
380
Record Type:
Journal Article
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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) ↗