Search Results - Márta Széll

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  1. 1
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    Phenotypic diversity of the recurrent p.Val379Leu missense mutation of the TGM1 gene by Adrienn Sulák, Kornélia Tripolszki, Katalin Farkas, Márta Széll, Nikoletta Nagy

    Published 2018
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  2. 2
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    Beyond C9orf72: repeat expansions and copy number variations as risk factors of amyotrophic lateral sclerosis across various populations by Zsófia Flóra Nagy, Margit Pál, József I. Engelhardt, Mária Judit Molnár, Péter Klivényi, Márta Széll

    Published 2024
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  3. 3
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    Electrochemotherapy for Non-melanoma Skin Cancer in a Child with Xeroderma Pigmentosum by Eszter Baltás, Erika Kis, Nikoletta Nagy, Nicolette Sohár, Erika Varga, Márta Széll, Lajos Kemény, Judit Oláh

    Published 2017
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    Genetic investigation confirmed the clinical phenotype of congenital chloride diarrhea in a Hungarian patient: a case report by Éva Dávid, Dóra Török, Katalin Farkas, Nikoletta Nagy, Emese Horváth, Zsuzsanna Kiss, György Oroszlán, Márta Balogh, Márta Széll

    Published 2019
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    A novel de novo truncating variant in a Hungarian patient with CTNNB1 neurodevelopmental disorder by Nikoletta Nagy, Margit Pál, Dóra Nagy, Barbara Anna Bokor, Aliz Zimmermann, Balázs Gellén, András Salamon, László Sztriha, Péter Klivényi, Márta Széll

    Published 2024
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