ADAM22 ethnic-specific variant reducing binding of membrane-associated guanylate kinases causes focal epilepsy and behavioural disorder
Nosková, Lenka, Fukata, Yuko, Stránecký, Viktor, Šaligová, Jana, Bodnárová, Oxana, Giertlová, Mária, Fukata, Masaki, Kmoch, Stanislav
Published in Brain communications (01.11.2023)
Published in Brain communications (01.11.2023)
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Spinal muscular atrophy caused by a novel Alu‐mediated deletion of exons 2a‐5 in SMN1 undetectable with routine genetic testing
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Published in Molecular genetics & genomic medicine (01.07.2020)
Published in Molecular genetics & genomic medicine (01.07.2020)
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Psychological Correlates of Post-COVID Condition
Giertlová, Mária, Misofová, Claudia
Published in Brain. Broad research in artificial intelligence and neuroscience (12.10.2024)
Published in Brain. Broad research in artificial intelligence and neuroscience (12.10.2024)
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Overexpression of Galectin-3 in Chronic Lymphocytic Leukemia Is Associated With 17p Deletion: A Short Report
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Published in Anticancer research (01.06.2019)
Published in Anticancer research (01.06.2019)
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Novel surfactant C variant c.325–47_374del without response to hydroxychloroquine treatment
Drobnakova, Simona, Vargova, Veronika, Smolova, Jana, Drencakova, Petra, Giertlova, Maria, Pisarcikova, Maria, Barkai, László
Published in Respiratory medicine case reports (01.01.2024)
Published in Respiratory medicine case reports (01.01.2024)
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Fatal neonatal nephrocutaneous syndrome in 18 Roma children with EGFR deficiency
Mazurova, Stella, Tesarova, Marketa, Zeman, Jiri, Stranecky, Viktor, Hansikova, Hana, Baxova, Alica, Giertlova, Maria, Lastuvkova, Jana, Chovanova, Vanda, Rusnakova, Simona, Knapkova, Maria, Minarik, Gabriel, Honzik, Tomas, Magner, Martin
Published in Journal of dermatology (01.06.2020)
Published in Journal of dermatology (01.06.2020)
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