Attenuated Type of Asphyxiating Thoracic Dysplasia due to Mutations in DYNC2H1 Gene

by Anna Čechová, Alice Baxová, Jiří Zeman, Lukáš Lambert, Tomáš Honzík, Alena Leiská, Václav Čunát, Markéta Tesařová
Published 2019-01-01

ALG3-CDG: a patient with novel variants and review of the genetic and ophthalmic findings

by Martina Farolfi, Anna Cechova, Nina Ondruskova, Jana Zidkova, Bohdan Kousal, Hana Hansikova, Tomas Honzik, Petra Liskova
Published 2021-06-01