Suchergebnisse - Filip Majer

Easy and fast PCR‐based protocol allows characterization of breakpoints resulting from Alu/Alu‐mediated genomic rearrangements von Filip Majer, Jakub Sikora

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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 von Ivana Jedličková, Anna Přistoupilová, Lenka Nosková, Filip Majer, Viktor Stránecký, Hana Hartmannová, Kateřina Hodaňová, Helena Trešlová, Michaela Hýblová, Peter Solár, Gabriel Minárik, Mária Giertlová, Stanislav Kmoch

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Danon disease is an underdiagnosed cause of advanced heart failure in young female patients: a LAMP2 flow cytometric study von Jiri Gurka, Lenka Piherova, Filip Majer, Anna Chaloupka, Daniela Zakova, Ondrej Pelak, Alice Krebsova, Petr Peichl, Jan Krejci, Tomas Freiberger, Vojtech Melenovsky, Josef Kautzner, Tomas Kalina, Jakub Sikora, Milos Kubanek

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Transcript, protein, metabolite and cellular studies in skin fibroblasts demonstrate variable pathogenic impacts of NPC1 mutations von Dita Musalkova, Filip Majer, Ladislav Kuchar, Ondrej Luksan, Befekadu Asfaw, Hana Vlaskova, Gabriela Storkanova, Martin Reboun, Helena Poupetova, Helena Jahnova, Helena Hulkova, Jana Ledvinova, Lenka Dvorakova, Jakub Sikora, Milan Jirsa, Marie T. Vanier, Martin Hrebicek

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