Genetic Aetiology of Nonsyndromic Hearing Loss in Moravia-Silesia

por Plevova, Pavlina, Tvrda, Petra, Paprskarova, Martina, Turska, Petra, Kantorova, Barbara, Mrazkova, Eva, Zapletalova, Jana
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

Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome: refining the ACMG criteria

por Savige, Judy, Storey, Helen, Watson, Elizabeth, Hertz, Jens Michael, Deltas, Constantinos, Renieri, Alessandra, Mari, Francesca, Hilbert, Pascale, Plevova, Pavlina, Byers, Peter, Cerkauskaite, Agne, Gregory, Martin, Cerkauskiene, Rimante, Ljubanovic, Danica Galesic, Becherucci, Francesca, Errichiello, Carmela, Massella, Laura, Aiello, Valeria, Lennon, Rachel, Hopkinson, Louise, Koziell, Ania, Lungu, Adrian, Rothe, Hansjorg Martin, Hoefele, Julia, Zacchia, Miriam, Martic, Tamara Nikuseva, Gupta, Asheeta, van Eerde, Albertien, Gear, Susie, Landini, Samuela, Palazzo, Viviana, al-Rabadi, Laith, Claes, Kathleen, Corveleyn, Anniek, Van Hoof, Evelien, van Geel, Micheel, Williams, Maggie, Ashton, Emma, Belge, Hendica, Ars, Elisabeth, Bierzynska, Agnieszka, Gangemi, Concetta, Lipska-Ziętkiewicz, Beata S.
Publicado 2021