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

  • Exome sequencing identifies novel NTRK1 mutations in patients with HSAN-IV phenotype.

    Published in:
    American Journal of Medical Genetics. Part A, 2017, v. 173, n. 4, p. 1009, doi. 10.1002/ajmg.a.38120
    By:
    • Altassan, Ruqaiah;
    • Saud, Haya Al;
    • Masoodi, Tariq Ahmad;
    • Dosssari, Haya Al;
    • Khalifa, Ola;
    • Al‐Zaidan, Hamad;
    • Sakati, Nadia;
    • Rhabeeni, Zuhair;
    • Al‐Hassnan, Zuhair;
    • Binamer, Yousef;
    • Alhashemi, Nadia;
    • Wade, William;
    • Al‐Zayed, Zayed;
    • Al‐Sayed, Moeen;
    • Al‐Muhaizea, Mohamed A.;
    • Meyer, Brian;
    • Al‐Owain, Mohammad;
    • Wakil, Salma M.
    Publication type:
    Article