A novel thrombocytopenia‐4‐causing CYCS gene variant decreases caspase activity: Three‐generation study by Štika, Jiří, Pešová, Michaela, Kozubík, Kateřina Staňo, Skalníková, Magdalena, Dostálová, Lenka, Loja, Tomáš, Radová, Lenka, Palušová, Veronika, Réblová, Kamila, Vrzalová, Zuzana, Blaháková, Ivona, Trizuljak, Jakub, Uldrijan, Stjepan, Blatný, Jan, Šmída, Michal, Pospíšilová, Šárka, Doubek, Michael

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Germline variant of CTC1 gene in a patient with pulmonary fibrosis and myelodysplastic syndrome by Doubková, Martina, Vrzalová, Zuzana, Štefániková, Marianna, Červinek, Libor, Kozubík, Kateřina Staňo, Blaháková, Ivona, Pospíšilová, Šárka, Doubek, Michael

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Extensive, 3.8 Mb-Sized Deletion of 22q12 in a Patient with Bilateral Schwannoma, Intellectual Disability, Sensorineural Hearing Loss, and Epilepsy by Trizuljak, Jakub, Duben, Jakub, Blaháková, Ivona, Vrzalová, Zuzana, Kozubík, Kateřina Staňo, Štika, Jiří, Radová, Lenka, Bergerová, Veronika, Mejstříková, Soňa, Hořínová, Věra, Jancalek, Radim, Pospíšilová, Šárka, Doubek, Michael

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Diagnosis of Bloom Syndrome in a Patient with Short Stature, Recurrence of Malignant Lymphoma, and Consanguineous Origin by Trizuljak, Jakub, Petruchová, Terezie, Blaháková, Ivona, Vrzalová, Zuzana, Hořínová, Věra, Doubková, Martina, Michalka, Jozef, Mayer, Jiří, Pospíšilová, Šárka, Doubek, Michael

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A GP1BA Variant in a Czech Family with Monoallelic Bernard-Soulier Syndrome by Skalníková, Magdalena, Staňo Kozubík, Kateřina, Trizuljak, Jakub, Vrzalová, Zuzana, Radová, Lenka, Réblová, Kamila, Holbová, Radka, Kurucová, Terézia, Svozilová, Hana, Štika, Jiří, Blaháková, Ivona, Dvořáčková, Barbara, Prudková, Marie, Stehlíková, Olga, Šmída, Michal, Křen, Leoš, Smejkal, Petr, Pospíšilová, Šárka, Doubek, Michael

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Novel genetic variant of HPS1 gene in Hermansky-Pudlak syndrome with fulminant progression of pulmonary fibrosis: a case report by Doubková, Martina, Trizuljak, Jakub, Vrzalová, Zuzana, Hrazdirová, Anna, Blaháková, Ivona, Radová, Lenka, Pospíšilová, Šárka, Doubek, Michael

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Impact of thrombocytopenia-associated c.-118C>T and c.-140C>G ANKRD26 5'UTR variants in three-generational pedigree by Trizuljak, Jakub, Likavcová, Paulína, Staňo Kozubík, Kateřina, Vrzalová, Zuzana, Hynšt, Jakub, Deissová, Tereza, Štika, Jiří, Radová, Lenka, Prudková, Marie, Vaculová, Jana, Blaháková, Ivona, Smejkal, Petr, Kamelander, Jan, Pospíšilová, Šárka, Doubek, Michael

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Identification and characterization of large deletions in the phenylalanine hydroxylase (PAH) gene by MLPA: Evidence for both homologous and non-homologous mechanisms of rearrangem... by Kozak, Libor, Hrabincova, Eva, Kintr, Jaromir, Horky, Ondrej, Zapletalova, Petra, Blahakova, Ivona, Mejstrik, Pavel, Prochazkova, Dagmar

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A patient with Smith–Lemli–Opitz syndrome: novel mutation of the DHCR7 gene and effects of therapy with simvastatin and cholesterol supplement by Szabó, Gabriella P., Oláh, Anna V., Kozak, Libor, Balogh, Erzsébet, Nagy, Andrea, Blahakova, Ivona, Oláh, Éva

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A patient with Smith-Lemli-Opitz syndrome: novel mutation of the DHCR 7 gene and effects of therapy with simvastatin and cholesterol supplement by SZABO, Gabriella P, OLAH, Anna V, KOZAK, Libor, BALOGH, Erzsébet, NAGY, Andrea, BLAHAKOVA, Ivona, OLAH, Eva

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