Found: 2

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  • 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

  • <italic>MPV17</italic>‐related mitochondrial DNA maintenance defect: New cases and review of clinical, biochemical, and molecular aspects.

    Published in:
    Human Mutation, 2018, v. 39, n. 4, p. 461, doi. 10.1002/humu.23387
    By:
    • El‐Hattab, Ayman W.;
    • Wang, Julia;
    • Dai, Hongzheng;
    • Almannai, Mohammed;
    • Staufner, Christian;
    • Alfadhel, Majid;
    • Gambello, Michael J.;
    • Prasun, Pankaj;
    • Raza, Saleem;
    • Lyons, Hernando J.;
    • Afqi, Manal;
    • Saleh, Mohammed A. M.;
    • Faqeih, Eissa A.;
    • Alzaidan, Hamad I.;
    • Alshenqiti, Abduljabbar;
    • Flore, Leigh Anne;
    • Hertecant, Jozef;
    • Sacharow, Stephanie;
    • Barbouth, Deborah S.;
    • Murayama, Kei
    Publication type:
    Article