Found: 2

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  • The Phenotype and Outcome of Infantile Cardiomyopathy Caused by a Homozygous ELAC2 Mutation.

    Published in:
    Cardiology, 2017, v. 137, n. 3, p. 188, doi. 10.1159/000465516
    By:
    • Shinwari, Zarghuna M.a.;
    • almesned, abdulrahman;
    • alakhfash, ali;
    • al-Rashdan, ahmad M.;
    • Faqeih, Eissa;
    • al-Humaidi, Zainab;
    • alomrani, ahmed;
    • alghamdi, Malak;
    • Colak, Dilek;
    • alwadai, abdullah;
    • Rababh, Monther;
    • al-Fayyadh, Majid;
    • al-Hassnan, Zuhair N.
    Publication type:
    Article

  • Clinical and biochemical features associated with BCS1L mutation.

    Published in:
    Journal of Inherited Metabolic Disease, 2013, v. 36, n. 5, p. 813, doi. 10.1007/s10545-012-9536-4
    By:
    • Al-Owain, Mohammed;
    • Colak, Dilek;
    • Albakheet, Albandary;
    • Al-Younes, Banan;
    • Al-Humaidi, Zainab;
    • Al-Sayed, Moeen;
    • Al-Hindi, Hindi;
    • Al-Sugair, Abdulaziz;
    • Al-Muhaideb, Ahmed;
    • Rahbeeni, Zuhair;
    • Al-Sehli, Abdullah;
    • Al-Fadhli, Fatima;
    • Ozand, Pinar;
    • Taylor, Robert;
    • Kaya, Namik
    Publication type:
    Article