Hasil Pencarian - Margit Pál

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  1. 1
    Developmental and tissue specific changes of ubiquitin forms in Drosophila melanogaster.

    Developmental and tissue specific changes of ubiquitin forms in Drosophila melanogaster. oleh Ágota Nagy, Levente Kovács, Zoltán Lipinszki, Margit Pál, Péter Deák

    Diterbitkan 2018-01-01
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  2. 2
    Likely Pathogenic Variants of Ca<sub>v</sub>1.3 and Na<sub>v</sub>1.1 Encoding Genes in Amyotrophic Lateral Sclerosis Could Elucidate the Dysregulated Pain Pathways

    Likely Pathogenic Variants of Ca<sub>v</sub>1.3 and Na<sub>v</sub>1.1 Encoding Genes in Amyotrophic Lateral Sclerosis Could Elucidate the Dysregulated Pain Pathways oleh Zsófia Flóra Nagy, Balázs Sonkodi, Margit Pál, Péter Klivényi, Márta Széll

    Diterbitkan 2023-03-01
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  3. 3
    Role of the deubiquitylating enzyme DmUsp5 in coupling ubiquitin equilibrium to development and apoptosis in Drosophila melanogaster.

    Role of the deubiquitylating enzyme DmUsp5 in coupling ubiquitin equilibrium to development and apoptosis in Drosophila melanogaster. oleh Levente Kovács, Olga Nagy, Margit Pál, Andor Udvardy, Octavian Popescu, Péter Deák

    Diterbitkan 2015-01-01
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  4. 4
    Beyond C9orf72: repeat expansions and copy number variations as risk factors of amyotrophic lateral sclerosis across various populations

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

    Diterbitkan 2024-01-01
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  5. 5
    A novel de novo truncating variant in a Hungarian patient with CTNNB1 neurodevelopmental disorder

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

    Diterbitkan 2024-01-01
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  6. 6
    Genetic Screening of a Hungarian Cohort with Focal Dystonia Identified Several Novel Putative Pathogenic Gene Variants

    Genetic Screening of a Hungarian Cohort with Focal Dystonia Identified Several Novel Putative Pathogenic Gene Variants oleh András Salamon, Zsófia Flóra Nagy, Margit Pál, Máté Szabó, Ádám Csősz, László Szpisjak, Gabriella Gárdián, Dénes Zádori, Márta Széll, Péter Klivényi

    Diterbitkan 2023-06-01
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  7. 7
    Whole-Exome Sequencing Identified Two Novel Pathogenic Mutations in the <i>PTCH1</i> Gene in BCNS

    Whole-Exome Sequencing Identified Two Novel Pathogenic Mutations in the <i>PTCH1</i> Gene in BCNS oleh Margit Pál, Éva Vetró, Nikoletta Nagy, Dóra Nagy, Emese Horváth, Barbara Anna Bokor, Anita Varga, László Seres, Judit Oláh, József Piffkó, Márta Széll

    Diterbitkan 2023-06-01
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  8. 8
    STABILON, a Novel Sequence Motif That Enhances the Expression and Accumulation of Intracellular and Secreted Proteins

    STABILON, a Novel Sequence Motif That Enhances the Expression and Accumulation of Intracellular and Secreted Proteins oleh Zsuzsanna Rethi-Nagy, Edit Abraham, Katalin Udvardy, Eva Klement, Zsuzsanna Darula, Margit Pal, Robert L. Katona, Vilmos Tubak, Tibor Pali, Zoltan Kota, Rita Sinka, Andor Udvardy, Zoltan Lipinszki

    Diterbitkan 2022-07-01
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  9. 9
    Genetic Etiology of Nonsyndromic Hearing Loss in Hungarian Patients

    Genetic Etiology of Nonsyndromic Hearing Loss in Hungarian Patients oleh Margit Pál, Dóra Nagy, Alexandra Neller, Katalin Farkas, Dóra Leprán-Török, Nikoletta Nagy, Dalma Füstös, Roland Nagy, Adrienne Németh, Judit Szilvássy, László Rovó, József Géza Kiss, Márta Széll

    Diterbitkan 2023-04-01
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  10. 10
    Missing Heritability in Albinism: Deep Characterization of a Hungarian Albinism Cohort Raises the Possibility of the Digenic Genetic Background of the Disease

    Missing Heritability in Albinism: Deep Characterization of a Hungarian Albinism Cohort Raises the Possibility of the Digenic Genetic Background of the Disease oleh Nikoletta Nagy, Margit Pal, Jozsef Kun, Bence Galik, Peter Urban, Marta Medvecz, Beata Fabos, Alexandra Neller, Aliasgari Abdolreza, Judit Danis, Viktoria Szabo, Zhuo Yang, Stefanie Fenske, Martin Biel, Attila Gyenesei, Eva Adam, Marta Szell

    Diterbitkan 2024-01-01
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