Works by Beate, B.


Results: 9
    1

    Genotype–phenotype associations within the Li-Fraumeni spectrum: a report from the German Registry.

    Published in:
    Journal of Hematology & Oncology, 2022, v. 15, n. 1, p. 1, doi. 10.1186/s13045-022-01332-1
    By:
    • Penkert, Judith;
    • Strüwe, Farina J.;
    • Dutzmann, Christina M.;
    • Doergeloh, Beate B.;
    • Montellier, Emilie;
    • Freycon, Claire;
    • Keymling, Myriam;
    • Schlemmer, Heinz-Peter;
    • Sänger, Birte;
    • Hoffmann, Beatrice;
    • Gerasimov, Tanja;
    • Blattmann, Claudia;
    • Fetscher, Sebastian;
    • Frühwald, Michael;
    • Hettmer, Simone;
    • Kordes, Uwe;
    • Ridola, Vita;
    • Kroiss Benninger, Sabine;
    • Mastronuzzi, Angela;
    • Schott, Sarah
    Publication type:
    Article
    2

    WARS1 and SARS1: Two tRNA synthetases implicated in autosomal recessive microcephaly.

    Published in:
    Human Mutation, 2022, v. 43, n. 10, p. 1454, doi. 10.1002/humu.24430
    By:
    • Bögershausen, Nina;
    • Krawczyk, Hannah E.;
    • Jamra, Rami A.;
    • Lin, Sheng‐Jia;
    • Yigit, Gökhan;
    • Hüning, Irina;
    • Polo, Anna M.;
    • Vona, Barbara;
    • Huang, Kevin;
    • Schmidt, Julia;
    • Altmüller, Janine;
    • Luppe, Johannes;
    • Platzer, Konrad;
    • Dörgeloh, Beate B.;
    • Busche, Andreas;
    • Biskup, Saskia;
    • Mendes, Marisa I.;
    • Smith, Desiree E. C.;
    • Salomons, Gajja S.;
    • Zibat, Arne
    Publication type:
    Article
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    6

    Surveillance recommendations for DICER1 pathogenic variant carriers: a report from the SIOPE Host Genome Working Group and CanGene-CanVar Clinical Guideline Working Group.

    Published in:
    Familial Cancer, 2021, v. 20, n. 4, p. 337, doi. 10.1007/s10689-021-00264-y
    By:
    • Bakhuizen, Jette J.;
    • Hanson, Helen;
    • van der Tuin, Karin;
    • Lalloo, Fiona;
    • Tischkowitz, Marc;
    • Wadt, Karin;
    • Jongmans, Marjolijn C. J.;
    • SIOPE Host Genome Working Group;
    • Dörgeloh, Beate B.;
    • Farah, Roula A.;
    • Glentis, Stavros;
    • Golmard, Lisa;
    • Hoyer, Juliane;
    • Jahnukainen, Kirsi;
    • Jewell, Rosalyn;
    • Karow, Axel;
    • Katsibardi, Katharina;
    • Kuhlen, Michaela;
    • Meinhardt, Andrea;
    • Nemes, Karolina
    Publication type:
    Article
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