Hasil Pencarian - Rawan Almass

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  1. 1
    SHQ1-associated neurodevelopmental disorder: Report of the first homozygous variant in unrelated patients and review of the literature

    SHQ1-associated neurodevelopmental disorder: Report of the first homozygous variant in unrelated patients and review of the literature oleh Aljouhra AlHargan, Mohammed A. AlMuhaizea, Rawan Almass, Ali H. Alwadei, Maha Daghestani, Stefan T. Arold, Namik Kaya

    Diterbitkan 2023-02-01
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  2. 2
    SLC25A42‐associated mitochondrial encephalomyopathy: Report of additional founder cases and functional characterization of a novel deletion

    SLC25A42‐associated mitochondrial encephalomyopathy: Report of additional founder cases and functional characterization of a novel deletion oleh Mazhor Aldosary, Shahad Baselm, Maha Abdulrahim, Rawan Almass, Maysoon Alsagob, Zainab AlMasseri, Rozeena Huma, Laila AlQuait, Tarfa Al‐Shidi, Eman Al‐Obeid, Albandary AlBakheet, Basma Alahideb, Lujane Alahaidib, Alya Qari, Robert W. Taylor, Dilek Colak, Moeenaldeen D. AlSayed, Namik Kaya

    Diterbitkan 2021-07-01
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  3. 3
    A novel missense mutation in ISCA2 causes aberrant splicing and leads to multiple mitochondrial dysfunctions syndrome 4

    A novel missense mutation in ISCA2 causes aberrant splicing and leads to multiple mitochondrial dysfunctions syndrome 4 oleh Zuhair Al-Hassnan, Zuhair Al-Hassnan, Mazhor AlDosary, Aljouhra AlHargan, Hanan AlQudairy, Rawan Almass, Khaled Omar Alahmadi, Saif AlShahrani, Albandary AlBakheet, Mohammad A. Almuhaizea, Mohammad A. Almuhaizea, Robert W. Taylor, Robert W. Taylor, Dilek Colak, Namik Kaya, Namik Kaya

    Diterbitkan 2024-10-01
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  4. 4
    A Novel Homozygous Founder Variant of <i>RTN4IP1</i> in Two Consanguineous Saudi Families

    A Novel Homozygous Founder Variant of <i>RTN4IP1</i> in Two Consanguineous Saudi Families oleh Mazhor Aldosary, Maysoon Alsagob, Hanan AlQudairy, Ana C. González-Álvarez, Stefan T. Arold, Mohammad Anas Dababo, Omar A. Alharbi, Rawan Almass, AlBandary AlBakheet, Dalia AlSarar, Alya Qari, Mysoon M. Al-Ansari, Monika Oláhová, Saif A. Al-Shahrani, Moeenaldeen AlSayed, Dilek Colak, Robert W. Taylor, Mohammed AlOwain, Namik Kaya

    Diterbitkan 2022-10-01
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  5. 5
    Identification of novel genomic imbalances in Saudi patients with congenital heart disease

    Identification of novel genomic imbalances in Saudi patients with congenital heart disease oleh Zuhair N. Al-Hassnan, Waad Albawardi, Faten Almutairi, Rawan AlMass, Albandary AlBakheet, Osama M. Mustafa, Laila AlQuait, Zarghuna M. A. Shinwari, Salma Wakil, Mustafa A. Salih, Majid Al-Fayyadh, Saeed M. Hassan, Mansour Aljoufan, Osima Al-Nakhli, Brynn Levy, Balsam AlMaarik, Hana A. Al-Hakami, Maysoon Alsagob, Dilek Colak, Namik Kaya

    Diterbitkan 2018-01-01
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