Found: 2

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  • Pathogenic WDFY3 variants cause neurodevelopmental disorders and opposing effects on brain size.

    Published in:
    2019
    By:
    • Duc, Diana Le;
    • Giulivi, Cecilia;
    • Hiatt, Susan M;
    • Napoli, Eleonora;
    • Panoutsopoulos, Alexios;
    • Crescenzo, Angelo Harlan De;
    • Kotzaeridou, Urania;
    • Syrbe, Steffen;
    • Anagnostou, Evdokia;
    • Azage, Meron;
    • Bend, Renee;
    • Begtrup, Amber;
    • Brown, Natasha J;
    • Büttner, Benjamin;
    • Cho, Megan T;
    • Cooper, Gregory M;
    • Doering, Jan H;
    • Dubourg, Christèle;
    • Everman, David B;
    • Hildebrand, Michael S
    Publication type:
    journal article

  • Refining Genotypes and Phenotypes in KCNA2 -Related Neurological Disorders.

    Published in:
    International Journal of Molecular Sciences, 2021, v. 22, n. 6, p. 2824, doi. 10.3390/ijms22062824
    By:
    • Döring, Jan H.;
    • Schröter, Julian;
    • Jüngling, Jerome;
    • Biskup, Saskia;
    • Klotz, Kerstin A.;
    • Bast, Thomas;
    • Dietel, Tobias;
    • Korenke, G. Christoph;
    • Christoph, Sophie;
    • Brennenstuhl, Heiko;
    • Rubboli, Guido;
    • Møller, Rikke S.;
    • Lesca, Gaetan;
    • Chaix, Yves;
    • Kölker, Stefan;
    • Hoffmann, Georg F.;
    • Lemke, Johannes R.;
    • Syrbe, Steffen;
    • Imbrici, Paola
    Publication type:
    Article