Novel Splicing Variant in the PMM2 Gene in a Patient With PMM2-CDG Syndrome Presenting With Pericardial Effusion: A Case Report

por Slaba, Katerina, Noskova, Hana, Vesela, Petra, Tuckova, Jana, Jicinska, Hana, Honzik, Tomas, Hansikova, Hana, Kleiblova, Petra, Stourac, Petr, Jabandziev, Petr, Slaby, Ondrej, Prochazkova, Dagmar
Publicado 2020

Pregnancy Termination and Postnatal Major Congenital Heart Defect Prevalence After Introduction of Prenatal Cardiac Screening

por Tomek, Viktor, Jičínská, Hana, Pavlíček, Jan, Kovanda, Jan, Jehlička, Petr, Klásková, Eva, Mrázek, Jiří, Čutka, David, Smetanová, Dagmar, Břešťák, Miroslav, Vlašín, Pavel, Pavlíková, Markéta, Chaloupecký, Václav, Janoušek, Jan, Marek, Jan
Publicado 2023