Hasil Pencarian - Hanan AlQudairy

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  1. 1
    Detailed genetic and clinical analysis of a novel de novo variant in HPRT1: Case report of a female patient from Saudi Arabia with Lesch–Nyhan syndrome

    Detailed genetic and clinical analysis of a novel de novo variant in HPRT1: Case report of a female patient from Saudi Arabia with Lesch–Nyhan syndrome oleh Albandary AlBakheet, Hanan AlQudairy, Joud Alkhalifah, Sheikhah Almoaily, Namik Kaya, Zuhair Rahbeeni

    Diterbitkan 2023-01-01
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  2. 2
    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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  3. 3
    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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  4. 4
    Clinical, radiological, and genetic characterization of SLC13A5 variants in Saudi families: Genotype phenotype correlation and brief review of the literature

    Clinical, radiological, and genetic characterization of SLC13A5 variants in Saudi families: Genotype phenotype correlation and brief review of the literature oleh Hanan AlQudairy, Hesham AlDhalaan, Sarah AlRuways, Sarah AlRuways, Nouf AlMutairi, Nouf AlMutairi, Maha AlNakiyah, Maha AlNakiyah, Reema AlGhofaili, Reema AlGhofaili, Albandary AlBakheet, Adeeb Alomrani, Omar A. Alharbi, Ehab Tous, Moeen AlSayed, Hamad AlZaidan, Maha M. AlRasheed, Maha M. AlRasheed, Ali AlOdaib, Namik Kaya

    Diterbitkan 2023-02-01
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