Search Results - "Alhabib, Fatimah A."

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  1. 1
    The Syndrome of Microcornea, Myopic Chorioretinal Atrophy, and Telecanthus (MMCAT) Is Caused by Mutations in ADAMTS18

    The Syndrome of Microcornea, Myopic Chorioretinal Atrophy, and Telecanthus (MMCAT) Is Caused by Mutations in ADAMTS18 by Aldahmesh, Mohammed A., Alshammari, Muneera J., Khan, Arif O., Mohamed, Jawahir Y., Alhabib, Fatimah A., Alkuraya, Fowzan S.

    Published in Human mutation (01-09-2013)
    “…ABSTRACT One of us recently described an apparently novel ocular syndrome characterized by microcornea, myopic chorioretinal atrophy, and telecanthus (MMCAT)…”
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  2. 2
    A syndrome of congenital hyperinsulinism and rhabdomyolysis is caused by KCNJ11 mutation

    A syndrome of congenital hyperinsulinism and rhabdomyolysis is caused by KCNJ11 mutation by Albaqumi, Mamdouh, Alhabib, Fatimah A, Shamseldin, Hanan E, Mohammed, Firdous, Alkuraya, Fowzan S

    Published in Journal of medical genetics (01-04-2014)
    “…Congenital hyperinsulinism is a genetically heterogeneous disorder, but mutations in the components of the ATP-sensitive potassium channel K(ATP) account for…”
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