The Key Role of Purine Metabolism in the Folate-Dependent Phenotype of Autism Spectrum Disorders: An In Silico Analysis

por Geryk, Jan, Krsička, Daniel, Vlčková, Markéta, Havlovicová, Markéta, Macek, Milan, Kremlíková Pourová, Radka
Publicado 2020

Detection rate of causal variants in severe childhood epilepsy is highest in patients with seizure onset within the first four weeks of life

por Staněk, David, Laššuthová, Petra, Štěrbová, Katalin, Vlčková, Markéta, Neupauerová, Jana, Krůtová, Marcela, Seeman, Pavel
Publicado 2018

A new patient with congenital myasthenic syndrome type 20 due to compound heterozygous missense SLC5A7 variants suggests trends in genotype–phenotype correlation

por Vlckova, Marketa, Prchalova, Darina, Zimmermann, Pavel, Haberlova, Jana, Bendova, Sarka, Moslerova, Veronika, Stranecky, Viktor, Sedlacek, Zdenek, Hancarova, Miroslava
Publicado 2023

COL4A1 mutation‐related disorder presenting as fetal intracranial bleeding, hydrocephalus, and polymicrogyria

por Straka, Barbora, Vlčková, Markéta, Libá, Zuzana, Heřmanovská, Barbora, Kynčl, Martin, Dorňáková, Jana, Táborský, Jakub, Kršek, Pavel, Musilová, Alena, Janota, Jan, Balaščaková, Miroslava
Publicado 2022

A boy with developmental delay and mosaic supernumerary inv dup(5)(p15.33p15.1) leading to distal 5p tetrasomy – case report and review of the literature

por Tesner, Pavel, Drabova, Jana, Stolfa, Miroslav, Kudr, Martin, Kyncl, Martin, Moslerova, Veronika, Novotna, Drahuse, Kremlikova Pourova, Radka, Kocarek, Eduard, Rasplickova, Tereza, Sedlacek, Zdenek, Vlckova, Marketa
Publicado 2018

Genetic Testing for Malformations of Cortical Development: A Clinical Diagnostic Study

por Straka, Barbora, Hermanovska, Barbora, Krskova, Lenka, Zamecnik, Josef, Vlckova, Marketa, Balascakova, Miroslava, Tesner, Pavel, Jezdik, Petr, Tichy, Michal, Kyncl, Martin, Musilova, Alena, Lassuthova, Petra, Marusic, Petr, Krsek, Pavel
Publicado 2022

Cutis laxa and excessive bone growth due to de novo mutations in PTDSS1

por Piard, Juliette, Lespinasse, James, Vlckova, Marketa, Mensah, Martin A., Iurian, Sorin, Simandlova, Martina, Malikova, Marcela, Bartsch, Oliver, Rossi, Massimiliano, Lenoir, Marion, Nugues, Frédérique, Mundlos, Stefan, Kornak, Uwe, Stanier, Philip, Sousa, Sérgio B., Van Maldergem, Lionel
Publicado 2018

A founder COL4A4 pathogenic variant resulting in autosomal recessive Alport syndrome accounts for most genetic kidney failure in Romani people

por Plevova, Pavlina, Indrakova, Jana, Savige, Judy, Kuhnova, Petra, Tvrda, Petra, Cerna, Dita, Hilscherova, Sarka, Kudrejova, Monika, Polendova, Daniela, Jaklova, Radka, Langova, Martina, Jahnova, Helena, Lastuvkova, Jana, Dusek, Jiri, Gut, Josef, Vlckova, Marketa, Solarova, Pavla, Kreckova, Gabriela, Kantorova, Eva, Soukalova, Jana, Slavkovsky, Rastislav, Zapletalova, Jana, Tichy, Tomas, Thomasova, Dana
Publicado 2023