Works matching IS 20734425 AND DT 2022 AND VI 13 AND IP 1


Results: 163
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    Genotype-Phenotype Comparison in POGZ-Related Neurodevelopmental Disorders by Using Clinical Scoring.

    Published in:
    Genes, 2022, v. 13, n. 1, p. 154, doi. 10.3390/genes13010154
    By:
    • Nagy, Dóra;
    • Verheyen, Sarah;
    • Wigby, Kristen M.;
    • Borovikov, Artem;
    • Sharkov, Artem;
    • Slegesky, Valerie;
    • Larson, Austin;
    • Fagerberg, Christina;
    • Brasch-Andersen, Charlotte;
    • Kibæk, Maria;
    • Bader, Ingrid;
    • Hernan, Rebecca;
    • High, Frances A.;
    • Chung, Wendy K.;
    • Schieving, Jolanda H.;
    • Behunova, Jana;
    • Smogavec, Mateja;
    • Laccone, Franco;
    • Witsch-Baumgartner, Martina;
    • Zobel, Joachim
    Publication type:
    Article
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    Novel Pathogenic Variants in PJVK , the Gene Encoding Pejvakin, in Subjects with Autosomal Recessive Non-Syndromic Hearing Impairment and Auditory Neuropathy Spectrum Disorder.

    Published in:
    Genes, 2022, v. 13, n. 1, p. 149, doi. 10.3390/genes13010149
    By:
    • Domínguez-Ruiz, María;
    • Rodríguez-Ballesteros, Montserrat;
    • Gandía, Marta;
    • Gómez-Rosas, Elena;
    • Villamar, Manuela;
    • Scimemi, Pietro;
    • Mancini, Patrizia;
    • Rendtorff, Nanna D.;
    • Moreno-Pelayo, Miguel A.;
    • Tranebjaerg, Lisbeth;
    • Medà, Carme;
    • Santarelli, Rosamaria;
    • del Castillo, Ignacio
    Publication type:
    Article
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    Cyanogenesis in the Sorghum Genus: From Genotype to Phenotype.

    Published in:
    Genes, 2022, v. 13, n. 1, p. 140, doi. 10.3390/genes13010140
    By:
    • Cowan, Max;
    • Møller, Birger Lindberg;
    • Norton, Sally;
    • Knudsen, Camilla;
    • Crocoll, Christoph;
    • Furtado, Agnelo;
    • Henry, Robert;
    • Blomstedt, Cecilia;
    • Gleadow, Roslyn M.
    Publication type:
    Article
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    Elucidating Hexanucleotide Repeat Number and Methylation within the X-Linked Dystonia-Parkinsonism (XDP)-Related SVA Retrotransposon in TAF1 with Nanopore Sequencing.

    Published in:
    Genes, 2022, v. 13, n. 1, p. 126, doi. 10.3390/genes13010126
    By:
    • Lüth, Theresa;
    • Laβ, Joshua;
    • Schaake, Susen;
    • Wohlers, Inken;
    • Pozojevic, Jelena;
    • Jamora, Roland Dominic G.;
    • Rosales, Raymond L.;
    • Brüggemann, Norbert;
    • Saranza, Gerard;
    • Diesta, Cid Czarina E.;
    • Schlüter, Kathleen;
    • Tse, Ronnie;
    • Reyes, Charles Jourdan;
    • Brand, Max;
    • Busch, Hauke;
    • Klein, Christine;
    • Westenberger, Ana;
    • Trinh, Joanne
    Publication type:
    Article
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