المؤلفون: Zuhair Al-Hassnan, Mazhor AlDosary, Aljouhra AlHargan, Hanan AlQudairy, Rawan Almass, Khaled Omar Alahmadi, Saif AlShahrani, Albandary AlBakheet, Mohammad A. Almuhaizea, Robert W. Taylor, Dilek Colak, Namik Kaya

المصدر: Frontiers in Psychiatry, Vol 15 (2024)

مصطلحات موضوعية: ISCA2 founder variant, novel splicing variant, mtDNA, depletion, leukodystrophy, neuroregression, Psychiatry, RC435-571

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fpsyt.2024.1428175/full; https://doaj.org/toc/1664-0640

URL الوصول: https://doaj.org/article/4ade44fe4cee4ea5857e51d393da9fdb

المؤلفون: 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

المصدر: JIMD Reports, Vol 60, Iss 1, Pp 75-87 (2021)

مصطلحات موضوعية: ATP production, deep brain stimulation, mitochondrial oxygen consumption, SLC25A42, truncation, Diseases of the endocrine glands. Clinical endocrinology, RC648-665, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2192-8312

URL الوصول: https://doaj.org/article/48917f01742c4d66a01fabd9bebcdbd0

المؤلفون: Mazhor Aldosary, Maha Al-Otaibi, Fatima Al-Fadhli, Namik Kaya, Raashda Sulaiman, Mohammed Al-Owain

المصدر: Journal of Biochemical and Clinical Genetics, Vol 2, Iss 1, Pp 81-84 (2019)

مصطلحات موضوعية: hemophagocytic lymphohistiocytosis, mitochondrial dysfunction, inherited metabolic, Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://www.ejmanager.com/fulltextpdf.php?mno=18963; https://doaj.org/toc/1658-807X

URL الوصول: https://doaj.org/article/2330cdd20b124f9ebdada44590ff0b43

المؤلفون: 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

المصدر: Cells, Vol 11, Iss 19, p 3154 (2022)

مصطلحات موضوعية: RTN4IP1, founder variant, missense, age of variant, encephalopathy, optic atrophy, Cytology, QH573-671

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2073-4409/11/19/3154; https://doaj.org/toc/2073-4409

URL الوصول: https://doaj.org/article/fd0e522686944e1699b9a065cd1564db

المؤلفون: Hamad Al-Zaidan, Marwan Yassin Shaheen, Mazhor Aldosary, Moeenaldeen Al-Sayed, Mohammed Al-Owain, Namik Kaya, Nasir Ahmed Bakshi, Raashda Ainuddin Sulaiman, Zuhair Al-Hassnan, Zuhair Rahbeeni

المصدر: Intractable & Rare Diseases Research. 2016, 5(3):227