Case report: Two heterozygous pathogenic variants of CYP24A1: A novel cause of hypercalcemia and nephrocalcinosis in adulthood

por Brunerova, Ludmila, Remes, Ondrej, Zoubkova, Veronika, Votypka, Pavel
Publicado 2023

Co-designing models for the communication of genomic results for rare diseases: a comparative study in the Czech Republic and the United Kingdom

por Costa, Alessia, Franková, Věra, Robert, Glenn, Macek, Milan, Patch, Christine, Alexander, Elizabeth, Arellanesova, Anna, Clayton-Smith, Jill, Hunter, Amy, Havlovicová, Markéta, Pourová, Radka, Pritchard, Marie, Roberts, Lauren, Zoubková, Veronika, Metcalfe, Alison
Publicado 2022

Correction to: Co‑designing models for the communication of genomic results for rare diseases: a comparative study in the Czech Republic and the United Kingdom

por Costa, Alessia, Franková, Věra, Robert, Glenn, Macek, Milan, Patch, Christine, Alexander, Elizabeth, Arellanesova, Anna, Clayton‑Smith, Jill, Hunter, Amy, Havlovicová, Markéta, Pourová, Radka, Pritchard, Marie, Roberts, Lauren, Zoubková, Veronika, Metcalfe, Alison
Publicado 2022

Post-mortem genetic testing in sudden cardiac death and genetic screening of relatives at risk: lessons learned from a Czech pilot multidisciplinary study

por Votýpka, Pavel, Krebsová, Alice, Norambuena-Poustková, Patricia, Peldová, Petra, Pohlová Kučerová, Štěpánka, Kulvajtová, Markéta, Dohnalová, Petra, Bílek, Matěj, Stufka, Veronika, Rücklová, Kristina, Grossová, Iva, Wünschová, Hanka, Tavačová, Terezia, Hašková, Jana, Segeťová, Markéta, Štoček, Jakub, Gřegořová, Andrea, Zoubková, Veronika, Petřková, Jana, Dobiáš, Martin, Makuša, Michal, Blanková, Alžběta, Vajtr, David, Řehulka, Hynek, Šubrt, Ivan, Pilin, Alexander, Tomášek, Petr, Janoušek, Jan, Kautzner, Josef, Macek, Milan
Publicado 2023

Natural history of KBG syndrome in a large European cohort

por Loberti, Lorenzo, Bruno, Lucia Pia, Granata, Stefania, Doddato, Gabriella, Resciniti, Sara, Fava, Francesca, Carullo, Michele, Rahikkala, Elisa, Jouret, Guillaume, Menke, Leonie A, Lederer, Damien, Vrielynck, Pascal, Ryba, Lukáš, Brunetti-Pierri, Nicola, Lasa-Aranzasti, Amaia, Cueto-González, Anna Maria, Trujillano, Laura, Valenzuela, Irene, Tizzano, Eduardo F, Spinelli, Alessandro Mauro, Bruno, Irene, Currò, Aurora, Stanzial, Franco, Benedicenti, Francesco, Lopergolo, Diego, Santorelli, Filippo Maria, Aristidou, Constantia, Tanteles, George A, Maystadt, Isabelle, Tkemaladze, Tinatin, Reimand, Tiia, Lokke, Helen, Õunap, Katrin, Haanpää, Maria K, Holubová, Andrea, Zoubková, Veronika, Schwarz, Martin, Žordania, Riina, Muru, Kai, Roht, Laura, Tihveräinen, Annika, Teek, Rita, Thomson, Ulvi, Atallah, Isis, Superti-Furga, Andrea, Buoni, Sabrina, Canitano, Roberto, Scandurra, Valeria, Rossetti, Annalisa, Grosso, Salvatore, Battini, Roberta, Baldassarri, Margherita, Mencarelli, Maria Antonietta, Rizzo, Caterina Lo, Bruttini, Mirella, Mari, Francesca, Ariani, Francesca, Renieri, Alessandra, Pinto, Anna Maria
Publicado 2022