Works by Koch-Hogrebe, Margarete

Results: 4
    1

    Correction to: The recurrent missense mutation p.(Arg367Trp) in YARS1 causes a distinct neurodevelopmental phenotype.

    Published in:
    2021
    By:
    • Averdunk, Luisa;
    • Sticht, Heinrich;
    • Surowy, Harald;
    • Lüdecke, Hermann‑Josef;
    • Koch‑Hogrebe, Margarete;
    • Alsaif, Hessa S.;
    • Kahrizi, Kimia;
    • Alzaidan, Hamad;
    • Alawam, Bashayer S.;
    • Tohary, Mohamed;
    • Kraus, Cornelia;
    • Endele, Sabine;
    • Wadman, Erin;
    • Kaplan, Julie D.;
    • Efthymiou, Stephanie;
    • Najmabadi, Hossein;
    • Reis, André;
    • Alkuraya, Fowzan S.;
    • Wieczorek, Dagmar
    Publication type:
    Correction Notice
    2

    The recurrent missense mutation p.(Arg367Trp) in YARS1 causes a distinct neurodevelopmental phenotype.

    Published in:
    Journal of Molecular Medicine, 2021, v. 99, n. 12, p. 1755, doi. 10.1007/s00109-021-02124-9
    By:
    • Averdunk, Luisa;
    • Sticht, Heinrich;
    • Surowy, Harald;
    • Lüdecke, Hermann-Josef;
    • Koch-Hogrebe, Margarete;
    • Alsaif, Hessa S.;
    • Kahrizi, Kimia;
    • Alzaidan, Hamad;
    • Alawam, Bashayer S.;
    • Tohary, Mohamed;
    • Kraus, Cornelia;
    • Endele, Sabine;
    • Wadman, Erin;
    • Kaplan, Julie D.;
    • Efthymiou, Stephanie;
    • Najmabadi, Hossein;
    • Reis, André;
    • Alkuraya, Fowzan S.;
    • Wieczorek, Dagmar
    Publication type:
    Article
    3

    Endocannabinoid dysfunction in neurological disease: neuro-ocular DAGLA-related syndrome.

    Published in:
    2022
    By:
    • Bainbridge, Matthew N;
    • Mazumder, Aloran;
    • Ogasawara, Daisuke;
    • Jamra, Rami Abou;
    • Bernard, Geneviève;
    • Bertini, Enrico;
    • Burglen, Lydie;
    • Cope, Heidi;
    • Crawford, Ali;
    • Derksen, Alexa;
    • Dure, Leon;
    • Gantz, Emily;
    • Koch-Hogrebe, Margarete;
    • Hurst, Anna C E;
    • Mahida, Sonal;
    • Marshall, Paige;
    • Micalizzi, Alessia;
    • Novelli, Antonio;
    • Peng, Hongfan;
    • Medicine, Rady Children's Institute for Genomic
    Publication type:
    journal article
    4