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  1. No Access

    Article

    Mutations in CIT, encoding citron rho-interacting serine/threonine kinase, cause severe primary microcephaly in humans

    Primary microcephaly is a clinical phenotype in which the head circumference is significantly reduced at birth due to abnormal brain development, primarily at the cortical level. Despite the marked genetic het...

    Ranad Shaheen, Amal Hashem, Ghada M. H. Abdel-Salam, Fatima Al-Fadhli… in Human Genetics (2016)

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    Article

    Clinical and biochemical features associated with BCS1L mutation

    Our study describes a novel phenotype in a series of nine Saudi patients with lactic acidosis, from four consanguineous families three of which are related. Detailed genetic studies including linkage, homozygo...

    Mohammed Al-Owain, Dilek Colak… in Journal of Inherited Metabolic Disease (2013)