Search Results - Albandary AlBakheet

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  1. 1

    Case report: Clinical and genetic characterization of a novel ALDH7A1 variant causing pyridoxine-dependent epilepsy, developmental delay, and intellectual disability in two sibling... by Mustafa A. Salih, Albandary AlBakheet, Rawan Almass, Ahlam A. A. Hamed, Ali AlOdaib, Namik Kaya

    Published in Frontiers in Psychiatry (2024-12-01)
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  2. 2

    Ancient founder mutation in RUBCN: a second unrelated family confirms Salih ataxia (SCAR15) by 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

    Published in BMC Neurology (2020-05-01)
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  3. 3

    Renal Failure Associated with APECED and Terminal 4q Deletion: Evidence of Autoimmune Nephropathy by 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

    Published in Clinical and Developmental Immunology (2010-01-01)
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  4. 4

    A novel missense mutation in ISCA2 causes aberrant splicing and leads to multiple mitochondrial dysfunctions syndrome 4 by 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

    Published in Frontiers in Psychiatry (2024-10-01)
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