Works matching X-linked genetic disorders

Results: 918
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    Two Novel Mouse Models of Duchenne Muscular Dystrophy with Similar Dmd Exon 51 Frameshift Mutations and Varied Phenotype Severity.

    Published in:
    International Journal of Molecular Sciences, 2025, v. 26, n. 1, p. 158, doi. 10.3390/ijms26010158
    By:
    • Baikova, Iuliia P.;
    • Ilchuk, Leonid A.;
    • Safonova, Polina D.;
    • Varlamova, Ekaterina A.;
    • Okulova, Yulia D.;
    • Kubekina, Marina V.;
    • Tvorogova, Anna V.;
    • Dolmatova, Daria M.;
    • Bakaeva, Zanda V.;
    • Kislukhina, Evgenia N.;
    • Lizunova, Natalia V.;
    • Bruter, Alexandra V.;
    • Silaeva, Yulia Yu.
    Publication type:
    Article
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    RSK2 Is a Modulator of Craniofacial Development.

    Published in:
    PLoS ONE, 2014, v. 9, n. 1, p. 1, doi. 10.1371/journal.pone.0084343
    By:
    • Laugel-Haushalter, Virginie;
    • Paschaki, Marie;
    • Marangoni, Pauline;
    • Pilgram, Coralie;
    • Langer, Arnaud;
    • Kuntz, Thibaut;
    • Demassue, Julie;
    • Morkmued, Supawich;
    • Choquet, Philippe;
    • Constantinesco, André;
    • Bornert, Fabien;
    • Schmittbuhl, Matthieu;
    • Pannetier, Solange;
    • Viriot, Laurent;
    • Hanauer, André;
    • Dollé, Pascal;
    • Bloch-Zupan, Agnès
    Publication type:
    Article
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    Cutaneous clues for diagnosing X-chromosomal disorders.

    Published in:
    Clinical Genetics, 2014, v. 85, n. 4, p. 328, doi. 10.1111/cge.12162
    By:
    • Vreeburg, M.;
    • Sallevelt, S.C.E.H.;
    • Stegmann, A.P.A.;
    • van Geel, M.;
    • Detisch, Y.J.H.A.;
    • Schrander‐Stumpel, C.T.R.M.;
    • van Steensel, M.A.M.;
    • Marcus‐Soekarman, D.
    Publication type:
    Article
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    X-Linked CGD Chorioretinitis in Two Young Girls.

    Published in:
    Biomedicines, 2025, v. 13, n. 2, p. 323, doi. 10.3390/biomedicines13020323
    By:
    • Bailey, Johnathan Abraham;
    • Kong, Maximilian Daechul;
    • Piamjitchol, Chanakarn;
    • Hou, Baichun;
    • Exinor, Abdhel;
    • Nayak, Antara;
    • Heaps, Noah;
    • Demirkol, Aykut;
    • Tsang, Stephen H.
    Publication type:
    Article
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