Novel genetic variant of HPS1 gene in Hermansky-Pudlak syndrome with fulminant progression of pulmonary fibrosis: a case report

por Doubková, Martina, Trizuljak, Jakub, Vrzalová, Zuzana, Hrazdirová, Anna, Blaháková, Ivona, Radová, Lenka, Pospíšilová, Šárka, Doubek, Michael
Publicado 2019

Germline variant of CTC1 gene in a patient with pulmonary fibrosis and myelodysplastic syndrome

por Doubková, Martina, Vrzalová, Zuzana, Štefániková, Marianna, Červinek, Libor, Kozubík, Kateřina Staňo, Blaháková, Ivona, Pospíšilová, Šárka, Doubek, Michael
Publicado 2023

A novel germline mutation of the SFTPA1 gene in familial interstitial pneumonia

por Doubková, Martina, Staňo Kozubík, Kateřina, Radová, Lenka, Pešová, Michaela, Trizuljak, Jakub, Pál, Karol, Svobodová, Klára, Réblová, Kamila, Svozilová, Hana, Vrzalová, Zuzana, Pospíšilová, Šárka, Doubek, Michael
Publicado 2019

P397: IKZF1 ALTERATIONS HAVE A NEGATIVE IMPACT ON EARLY MOLECULAR RESPONSE AND SURVIVAL OF ADULT PATIENTS WITH B-CELL PRECURSOR ACUTE LYMPHOBLASTIC LEUKEMIA TREATED WITH GMALL 07/2...

por Polivkova, Vaclava, Hrabovsky, Stepan, Vrzalova, Zuzana, Stika, Jiri, Horacek, Jan, Pecherková, Pavla, Halamova, Hana, Zuna, Jan, Trka, Jan, Fronkova, Eva, Zaliova, Marketa, Doubek, Michael, Machova Polakova, Katerina, Salek, Cyril
Publicado 2023

Very rare near‐haploid acute lymphoblastic leukemia resistant to immunotherapy and CAR‐T therapy in 19‐year‐old male patient

por Arpas, Tomas, Jelinkova, Hana, Hrabovsky, Stepan, Orsulova, Martina, Vrzalova, Zuzana, Navrkalova, Veronika, Brhelova, Eva, Bryjova, Lenka, Bulikova, Alena, Ondrouskova, Eva, Sejnohova, Marketa, Folber, Frantisek, Sedová, Petra, Mayer, Jiri, Pospisilova, Sarka, Jarosova, Marie, Doubek, Michael
Publicado 2022

A GP1BA Variant in a Czech Family with Monoallelic Bernard-Soulier Syndrome

por 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
Publicado 2022