Found: 5

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  • Mutation in WDR4 impairs tRNA m<sup>7</sup>G<sub>46</sub> methylation and causes a distinct form of microcephalic primordial dwarfism.

    Published in:
    Genome Biology, 2015, v. 16, n. 1, p. 1, doi. 10.1186/s13059-015-0779-x
    By:
    • Shaheen, Ranad;
    • Abdel-Salam, Ghada M. H.;
    • Guy, Michael P.;
    • Alomar, Rana;
    • Abdel-Hamid, Mohamed S.;
    • Afifi, Hanan H.;
    • Ismail, Samira I.;
    • Emam, Bayoumi A.;
    • 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

  • Identification of a novel MKS locus defined by TMEM107 mutation.

    Published in:
    Human Molecular Genetics, 2015, v. 24, n. 18, p. 5211, doi. 10.1093/hmg/ddv242
    By:
    • Shaheen, Ranad;
    • Almoisheer, Agaadir;
    • Faqeih, Eissa;
    • Babay, Zainab;
    • Monies, Dorota;
    • Tassan, Nada;
    • Abouelhoda, Mohamed;
    • Kurdi, Wesam;
    • Al Mardawi, Elham;
    • Khalil, Mohamed M. I.;
    • Seidahmed, Mohammed Zain;
    • Alnemer, Maha;
    • Alsahan, Nada;
    • Sogaty, Samira;
    • Alhashem, Amal;
    • Singh, Ankur;
    • Goyal, Manisha;
    • Kapoor, Seema;
    • Alomar, Rana;
    • Ibrahim, Niema
    Publication type:
    Article

  • A novel mechanism for variable phenotypic expressivity in Mendelian diseases uncovered by an AU-rich element (ARE)- creating mutation.

    Published in:
    Genome Biology, 2017, v. 18, p. 1, doi. 10.1186/s13059-017-1274-3
    By:
    • Patel, Nisha;
    • Khan, Arif O.;
    • Al-Saif, Maher;
    • Moghrabi, Walid N.;
    • AlMaarik, Balsam M.;
    • Ibrahim, Niema;
    • Abdulwahab, Firdous;
    • Hashem, Mais;
    • Alshidi, Tarfa;
    • Alobeid, Eman;
    • Alomar, Rana A.;
    • Al-Harbi, Saad;
    • Abouelhoda, Mohamed;
    • Khabar, Khalid S. A.;
    • Alkuraya, Fowzan S.
    Publication type:
    Article