Found: 5

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  • Biallelic variants in CTU2 cause DREAM‐PL syndrome and impair thiolation of tRNA wobble U34.

    Published in:
    Human Mutation, 2019, v. 40, n. 11, p. 2108, doi. 10.1002/humu.23870
    By:
    • Shaheen, Ranad;
    • Mark, Paul;
    • Prevost, Christopher T.;
    • AlKindi, Adila;
    • Alhag, Ahmad;
    • Estwani, Fatima;
    • Al‐Sheddi, Tarfa;
    • Alobeid, Eman;
    • Alenazi, Mona M.;
    • Ewida, Nour;
    • Ibrahim, Niema;
    • Hashem, Mais;
    • Abdulwahab, Firdous;
    • Bryant, Emily M.;
    • Spinelli, Egidio;
    • Millichap, John;
    • Barnett, Sarah S.;
    • Kearney, Hutton M.;
    • Accogli, Andrea;
    • Scala, Marcello
    Publication type:
    Article

  • NUP214 deficiency causes severe encephalopathy and microcephaly in humans.

    Published in:
    Human Genetics, 2019, v. 138, n. 3, p. 221, doi. 10.1007/s00439-019-01979-w
    By:
    • Shamseldin, Hanan E.;
    • Makhseed, Nawal;
    • Ibrahim, Niema;
    • Al-Sheddi, Tarfa;
    • Alobeid, Eman;
    • Abdulwahab, Firdous;
    • Alkuraya, Fowzan S.
    Publication type:
    Article

  • PUS7 mutations impair pseudouridylation in humans and cause intellectual disability and microcephaly.

    Published in:
    Human Genetics, 2019, v. 138, n. 3, p. 231, doi. 10.1007/s00439-019-01980-3
    By:
    • Shaheen, Ranad;
    • Tasak, Monika;
    • Maddirevula, Sateesh;
    • Abdel-Salam, Ghada M. H.;
    • Sayed, Inas S. M.;
    • Alazami, Anas M.;
    • Al-Sheddi, Tarfa;
    • Alobeid, Eman;
    • Phizicky, Eric M.;
    • Alkuraya, Fowzan S.
    Publication type:
    Article

  • The many faces of peroxisomal disorders: Lessons from a large Arab cohort.

    Published in:
    Clinical Genetics, 2019, v. 95, n. 2, p. 310, doi. 10.1111/cge.13481
    By:
    • Alshenaifi, Jumanah;
    • Ewida, Nour;
    • Anazi, Shams;
    • Shamseldin, Hanan E.;
    • Patel, Nisha;
    • Maddirevula, Sateesh;
    • Al‐Sheddi, Tarfa;
    • Alomar, Rana;
    • Alobeid, Eman;
    • Ibrahim, Niema;
    • Hashem, Mais;
    • Abdulwahab, Firdous;
    • Jacob, Minnie;
    • Alhashem, Amal;
    • Alzaidan, Hamad I.;
    • Seidahmed, Mohammed Z.;
    • Alhashemi, Nadia;
    • Rawashdeh, Rifaat;
    • Eyaid, Wafaa;
    • Al‐Hassnan, Zuhair N.
    Publication type:
    Article

  • The genetic landscape of familial congenital hydrocephalus.

    Published in:
    2017
    By:
    • Shaheen, Ranad;
    • Sebai, Mohammed Adeeb;
    • Patel, Nisha;
    • Ewida, Nour;
    • Kurdi, Wesam;
    • Altweijri, Ikhlass;
    • Sogaty, Sameera;
    • Almardawi, Elham;
    • Seidahmed, Mohammed Zain;
    • Alnemri, Abdulrahman;
    • Madirevula, Sateesh;
    • Ibrahim, Niema;
    • Abdulwahab, Firdous;
    • Hashem, Mais;
    • Al‐Sheddi, Tarfa;
    • Alomar, Rana;
    • Alobeid, Eman;
    • Sallout, Bahauddin;
    • AlBaqawi, Badi;
    • AlAali, Wajeih
    Publication type:
    journal article