Sudden cardiac arrest in a child with Gitelman syndrome: a case report and literature review

por Zieg, Jakub, Tavačová, Terezia, Balaščáková, Miroslava, Peldová, Petra, Fencl, Filip, Kubuš, Peter
Publicado 2023

Schimke immunoosseous dysplasia: an ultra-rare disease. a 20-year case series from the tertiary hospital in the Czech Republic

por Zieg, Jakub, Bezdíčka, Martin, Němčíková, Michaela, Balaščáková, Miroslava, Suková, Martina, Štěrbová, Katalin, Vondrák, Karel, Dušek, Jiří, Křepelová, Anna
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

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

Rituximab resistant evans syndrome and autoimmunity in Schimke immuno-osseous dysplasia

por Zieg, Jakub, Krepelova, Anna, Baradaran-Heravi, Alireza, Levtchenko, Elena, Guillén-Navarro, Encarna, Balascakova, Miroslava, Sukova, Martina, Seeman, Tomas, Dusek, Jiri, Simankova, Nadezda, Rosik, Tomas, Skalova, Sylva, Lebl, Jan, Boerkoel, Cornelius F
Publicado 2011

Constitutively active Lyn kinase causes a cutaneous small vessel vasculitis and liver fibrosis syndrome

por de Jesus, Adriana A., Chen, Guibin, Yang, Dan, Brdicka, Tomas, Ruth, Natasha M., Bennin, David, Cebecauerova, Dita, Malcova, Hana, Freeman, Helen, Martin, Neil, Svojgr, Karel, Passo, Murray H., Bhuyan, Farzana, Alehashemi, Sara, Rastegar, Andre T., Uss, Katsiaryna, Kardava, Lela, Marrero, Bernadette, Duric, Iris, Omoyinmi, Ebun, Peldova, Petra, Lee, Chyi-Chia Richard, Kleiner, David E., Hadigan, Colleen M., Hewitt, Stephen M., Pittaluga, Stefania, Carmona-Rivera, Carmelo, Calvo, Katherine R., Shah, Nirali, Balascakova, Miroslava, Fink, Danielle L., Kotalova, Radana, Parackova, Zuzana, Peterkova, Lucie, Kuzilkova, Daniela, Campr, Vit, Sramkova, Lucie, Biancotto, Angelique, Brooks, Stephen R., Manes, Cameron, Meffre, Eric, Harper, Rebecca L., Kuehn, Hyesun, Kaplan, Mariana J., Brogan, Paul, Rosenzweig, Sergio D., Merchant, Melinda, Deng, Zuoming, Huttenlocher, Anna, Moir, Susan L., Kuhns, Douglas B., Boehm, Manfred, Skvarova Kramarzova, Karolina, Goldbach-Mansky, Raphaela
Publicado 2023