نتائج البحث - Albandary Albakheet
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Case report: Clinical and genetic characterization of a novel ALDH7A1 variant causing pyridoxine-dependent epilepsy, developmental delay, and intellectual disability in two sibling... حسب Mustafa A. Salih, Albandary AlBakheet, Rawan Almass, Ahlam A. A. Hamed, Ali AlOdaib, Namik Kaya
الحاوية / القاعدة Frontiers in Psychiatry (2024-12-01)احصل على النص الكامل
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Ancient founder mutation in RUBCN: a second unrelated family confirms Salih ataxia (SCAR15) حسب 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
الحاوية / القاعدة BMC Neurology (2020-05-01)احصل على النص الكامل
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Age-specific gene expression signatures for breast tumors and cross-species conserved potential cancer progression markers in young women. حسب Dilek Colak, Asmaa Nofal, Albandary Albakheet, Maimoona Nirmal, Hatim Jeprel, Abdelmoneim Eldali, Taher Al-Tweigeri, Asma Tulbah, Dahish Ajarim, Osama Al Malik, Mehmet S Inan, Namik Kaya, Ben H Park, Suad M Bin Amer
الحاوية / القاعدة PLoS ONE (2013-01-01)احصل على النص الكامل
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Natural history of SPTBN4-related neurodevelopmental disorder with hypotonia, neuropathy, and deafness حسب Hanan AlQudairy, Mohammad A. AlMuhaizea, Mohamed Tohary, Maissa Alfuraih, Aisha Alnafisah, Aljouhra AlHargan, Anoud Albader, Hadeel Jaber, Rawan Almass, Albandary Albakheet, Terfa Alsheddi, Eman AlObeid, Maha M. Alrasheed, Ali Al-Odaib, Hamad AlZaidan, Moeenaldeen D. AlSayed, Namik Kaya
الحاوية / القاعدة Orphanet Journal of Rare Diseases (2025-08-01)احصل على النص الكامل
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A novel missense mutation in ISCA2 causes aberrant splicing and leads to multiple mitochondrial dysfunctions syndrome 4 حسب 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
الحاوية / القاعدة Frontiers in Psychiatry (2024-10-01)احصل على النص الكامل
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