Found: 2

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  • Heterozygous variants in SPTBN1 cause intellectual disability and autism.

    Published in:
    American Journal of Medical Genetics. Part A, 2021, v. 185, n. 7, p. 2037, doi. 10.1002/ajmg.a.62201
    By:
    • Rosenfeld, Jill A.;
    • Xiao, Rui;
    • Bekheirnia, Mir Reza;
    • Kanani, Farah;
    • Parker, Michael J.;
    • Koenig, Mary K.;
    • Haeringen, Arie;
    • Ruivenkamp, Claudia;
    • Rosmaninho‐Salgado, Joana;
    • Almeida, Pedro M.;
    • Sá, Joaquim;
    • Pinto Basto, Jorge;
    • Palen, Emily;
    • Oetjens, Kathryn F.;
    • Burrage, Lindsay C.;
    • Xia, Fan;
    • Liu, Pengfei;
    • Eng, Christine M.;
    • Yang, Yaping;
    • Posey, Jennifer E.
    Publication type:
    Article

  • The phenotypic presentation of adult individuals with SLC6A1-related neurodevelopmental disorders.

    Published in:
    Frontiers in Neuroscience, 2023, p. 1, doi. 10.3389/fnins.2023.1216653
    By:
    • Johannesen, Katrine M.;
    • Nielsen, Jimmi;
    • Sabers, Anne;
    • Isidor, Bertrand;
    • Kattentidt-Mouravieva, Anja A.;
    • Zieglgänsberger, Dominik;
    • Heidlebaugh, Alexis R.;
    • Oetjens, Kathryn F.;
    • Vidal, Anna Abuli;
    • Christensen, Jakob;
    • Tiller, Jacob;
    • Freed, Amber N.;
    • Møller, Rikke S.;
    • Rubboli, Guido
    Publication type:
    Article