Hasil Pencarian - Albandary AlBakheet

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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
    p16( INK4a) positively regulates cyclin D1 and E2F1 through negative control of AUF1.

    p16( INK4a) positively regulates cyclin D1 and E2F1 through negative control of AUF1. oleh Huda H Al-Khalaf, Dilek Colak, Maher Al-Saif, Albandary Al-Bakheet, Siti-Faujiah Hendrayani, Nujoud Al-Yousef, Namik Kaya, Khalid S Khabar, Abdelilah Aboussekhra

    Diterbitkan 2011-01-01
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  3. 3
    Ancient founder mutation in RUBCN: a second unrelated family confirms Salih ataxia (SCAR15)

    Ancient founder mutation in RUBCN: a second unrelated family confirms Salih ataxia (SCAR15) oleh Mohammed Z. Seidahmed, Muddathir H. Hamad, Albandary AlBakheet, Salah A. Elmalik, Abdulmajeed AlDrees, Jumanah Al-Sufayan, Ibrahim Alorainy, Ibrahim M. Ghozzi, Dilek Colak, Mustafa A. Salih, Namik Kaya

    Diterbitkan 2020-05-01
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  4. 4
    First report of two successive deletions on chromosome 15q13 cytogenetic bands in a boy and girl: additional data to 15q13.3 syndrome with a report of high IQ patient

    First report of two successive deletions on chromosome 15q13 cytogenetic bands in a boy and girl: additional data to 15q13.3 syndrome with a report of high IQ patient oleh Maysoon Alsagob, Mustafa A. Salih, Muddathir H. A. Hamad, Yusra Al-Yafee, Jawaher Al-Zahrani, Albandary Al-Bakheet, Michael Nester, Nadia Sakati, Salma M. Wakil, Ali AlOdaib, Dilek Colak, Namik Kaya

    Diterbitkan 2019-05-01
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  5. 5
    Renal Failure Associated with APECED and Terminal 4q Deletion: Evidence of Autoimmune Nephropathy

    Renal Failure Associated with APECED and Terminal 4q Deletion: Evidence of Autoimmune Nephropathy oleh Mohammed Al-Owain, Namik Kaya, Hamad Al-Zaidan, Ibrahim Bin Hussain, Hadeel Al-Manea, Hindi Al-Hindi, Shelley Kennedy, M. Anwar Iqbal, Hamad Al-Mojalli, Albandary Al-Bakheet, Anne Puel, Jean-Laurent Casanova, Saleh Al-Muhsen

    Diterbitkan 2010-01-01
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  6. 6
    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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  7. 7
    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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  8. 8
    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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  9. 9
    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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