Works matching DE "GLYCOSYLPHOSPHATIDYLINOSITOL"


Results: 392
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    Biallelic mutations in PIGP cause developmental and epileptic encephalopathy.

    Published in:
    Annals of Clinical & Translational Neurology, 2019, v. 6, n. 5, p. 968, doi. 10.1002/acn3.768
    By:
    • Krenn, Martin;
    • Knaus, Alexej;
    • Westphal, Dominik S.;
    • Wortmann, Saskia B.;
    • Polster, Tilman;
    • Woermann, Friedrich G.;
    • Karenfort, Michael;
    • Mayatepek, Ertan;
    • Meitinger, Thomas;
    • Wagner, Matias;
    • Distelmaier, Felix
    Publication type:
    Article
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    A Novel Homozygous Missense Variant of PIGT Related to Multiple Congenital Anomalies-Hypotonia Seizures Syndrome 3 with Elevated of Serum ALP Level in a Thai Newborn Patient.

    Published in:
    International Journal of Molecular Sciences, 2025, v. 26, n. 6, p. 2790, doi. 10.3390/ijms26062790
    By:
    • Klangjorhor, Jeerawan;
    • Wiwattanadittakul, Natrujee;
    • Jaimalai, Thanapak;
    • Thongkumkoon, Patcharawadee;
    • Noisagul, Pitiporn;
    • Khiaomai, Ratchadaporn;
    • Sirikaew, Nutnicha;
    • Moonsan, Nonthanan;
    • Pasena, Arnat;
    • Suksakit, Pathacha;
    • Teeyakasem, Pimpisa;
    • Chaiyawat, Parunya;
    • Tengsujaritkul, Maliwan
    Publication type:
    Article
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