Hasil Pencarian - Ivan Subrt

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  1. 1
    A recurrent synonymous L1CAM variant in a fetus with hydrocephalus

    A recurrent synonymous L1CAM variant in a fetus with hydrocephalus oleh Ivan Šubrt, Tomáš Zavoral, Lukáš Strych, Monika Černá, Markéta Hejnalová, Pavla Komrsková, Jitka Tejcová

    Diterbitkan 2024-01-01
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  2. 2
    Late diagnosis of complete androgen insensitivity syndrome and transmission/carriers of the condition in a family with mutation c.2495G> T p.(Arg832Leu) in exon 7 of the androgen receptor gene: genetic, clinical and ethical aspects

    Late diagnosis of complete androgen insensitivity syndrome and transmission/carriers of the condition in a family with mutation c.2495G> T p.(Arg832Leu) in exon 7 of the androge... oleh Renata Pomahacova, Jana Zamboryova, Petra Paterova, Anna Krepelova, Ivan Subrt, Radka Jaklova, Petra Vohradska, Eliska Hrdonkova, Josef Sykora

    Diterbitkan 2019-12-01
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  3. 3
    Cystic ovarian teratoma as a novel tumor and growth hormone deficiency as a new condition presenting in Multiple Endocrine Neoplasia type 2B: Case reports and review of the literature

    Cystic ovarian teratoma as a novel tumor and growth hormone deficiency as a new condition presenting in Multiple Endocrine Neoplasia type 2B: Case reports and review of the literat... oleh Renata Pomahacova, Petra Paterova, Eva Nykodymova, Eliska Vaclavikova, Pavla Sykorova, Katerina Personova, Ramir Katra, Ivan Subrt, Josef Sykora

    Diterbitkan 2022-03-01
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  4. 4
    Targeted long-read sequencing identified a causal structural variant in X-linked nephrogenic diabetes insipidus

    Targeted long-read sequencing identified a causal structural variant in X-linked nephrogenic diabetes insipidus oleh Lukáš Strych, Monika Černá, Markéta Hejnalová, Tomáš Zavoral, Pavla Komrsková, Jitka Tejcová, Ibrahim Bitar, Eva Sládková, Josef Sýkora, Ivan Šubrt

    Diterbitkan 2024-01-01
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  5. 5
    A deep intronic recurrent CHEK2 variant c.1009-118_1009-87delinsC affects pre-mRNA splicing and contributes to hereditary breast cancer predisposition

    A deep intronic recurrent CHEK2 variant c.1009-118_1009-87delinsC affects pre-mRNA splicing and contributes to hereditary breast cancer predisposition oleh Petra Zemankova, Marta Cerna, Klara Horackova, Corinna Ernst, Jana Soukupova, Marianna Borecka, Britta Blümcke, Leona Cerna, Monika Cerna, Vaclava Curtisova, Tatana Dolezalova, Petra Duskova, Lenka Dvorakova, Lenka Foretova, Ondrej Havranek, Jan Hauke, Eric Hahnen, Miloslava Hodulova, Milena Hovhannisyan, Lucie Hruskova, Marketa Janatova, Maria Janikova, Sandra Jelinkova, Pavel Just, Marcela Kosarova, Monika Koudova, Vera Krutilkova, Eva Machackova, Katerina Matejkova, Renata Michalovska, Adela Misove, Petr Nehasil, Barbora Nemcova, Jan Novotny, Ales Panczak, Pavel Pesek, Ondrej Scheinost, Drahomira Springer, Barbora Stastna, Viktor Stranecky, Ivan Subrt, Spiros Tavandzis, Eva Tureckova, Kamila Vesela, Zdenka Vlckova, Michal Vocka, Barbara Wappenschmidt, Tomas Zima, Zdenek Kleibl, Petra Kleiblova

    Diterbitkan 2024-06-01
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  6. 6
    A comprehensive study evaluating germline FANCG variants in predisposition to breast and ovarian cancer

    A comprehensive study evaluating germline FANCG variants in predisposition to breast and ovarian cancer oleh Jana Soukupova, Barbora Stastna, Madiha Kanwal, Jan Hojny, Petra Zemankova, Marianna Borecka, Leona Cerna, Marta Cerna, Monika Cerna, Vaclava Curtisova, Tatana Dolezalova, Petra Duskova, Lenka Foretova, Ondrej Havranek, Klara Horackova, Milena Hovhannisyan, Lucie Hruskova, Stepan Chvojka, Marketa Janatova, Maria Janikova, Sandra Jelinkova, Pavel Just, Marta Kalousova, Petra Kleiblova, Marcela Kosarova, Monika Koudova, Jan Kral, Michaela Krausova, Vera Krutilkova, Eva Machackova, Katerina Matejkova, Renata Michalovska, Petr Nehasil, Barbora Nemcova, Jan Novotny, Matous Palek, Pavel Pesek, Marketa Safarikova, Ondrej Scheinost, Drahomira Springer, Lenka Stolarova, Viktor Stranecky, Ivan Subrt, Spiros Tavandzis, Eva Tureckova, Kamila Vesela, Zdenka Vlckova, Michal Vocka, Tomas Zima, Libor Macurek, Zdenek Kleibl, the CZECANCA consortium

    Diterbitkan 2024-08-01
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