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1دورية أكاديمية
المؤلفون: Maryam Alowaysi, Robert Lehmann, Mohammad Al-Shehri, Moayad Baadhaim, Hajar Alzahrani, Doaa Aboalola, Asima Zia, Dalal Malibari, Mustafa Daghestani, Khaled Alghamdi, Ali Haneef, Dunia Jawdat, Fahad Hakami, David Gomez-Cabrero, Jesper Tegner, Khaled Alsayegh
المصدر: Stem Cell Research & Therapy, Vol 14, Iss 1, Pp 1-15 (2023)
مصطلحات موضوعية: Induced pluripotent stem cells, HLA-based banking, IPS-based therapies, Biobanking, Saudi Arabia, Medicine (General), R5-920, Biochemistry, QD415-436
وصف الملف: electronic resource
Relation: https://doaj.org/toc/1757-6512
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2دورية أكاديمية
المؤلفون: Ahmad Alahmad, Alessia Nasca, Juliana Heidler, Kyle Thompson, Monika Oláhová, Andrea Legati, Eleonora Lamantea, Jana Meisterknecht, Manuela Spagnolo, Langping He, Seham Alameer, Fahad Hakami, Abeer Almehdar, Anna Ardissone, Charlotte L Alston, Robert McFarland, Ilka Wittig, Daniele Ghezzi, Robert W Taylor
المصدر: EMBO Molecular Medicine, Vol 12, Iss 11, Pp n/a-n/a (2020)
مصطلحات موضوعية: complex I, Leigh syndrome, mitochondrial disease, NDUFC2, OXPHOS, Medicine (General), R5-920, Genetics, QH426-470
وصف الملف: electronic resource
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3
المؤلفون: Nada Derar, John A. Sayer, Khushnooda Ramzan, Gawaher Almutairi, Bashayer Saeed, Hanifa Bukhari, Nora Almuhana, Rubina Khan, Laila Alquayt, Maha Tulbah, Rafiullah Rafiullah, Maisoon Almugbel, Saja S Alamri, Dorota Monies, Faiqa Imtiaz, Asma Akilan, Abrar AlKhalifah, Mirna Assoum, Rana Akili, Fahad Hakami, Samia AlDawoud, Wardah AlMubarak, Zuhair Rahbeeni, Afaf Al-Otaibi, Amal AlShammasi, Wesam Kurdi, Samia Hagos, Maha Alnemer, Nada Alsahan, Hadeel Elbardisy, Wafaa Ali, Mohannad Ali, Mohamed Abouelhoda, Mohamed H Al-Hamed, Zeeshan Shah
المصدر: Human Genetics. 141:101-126
مصطلحات موضوعية: Genetics, Fetus, education.field_of_study, Population, Prenatal diagnosis, Consanguinity, Biology, medicine.disease, Human genetics, Ciliopathy, medicine, education, Genetics (clinical), Loss function, Exome sequencing
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4دورية أكاديمية
المؤلفون: Abdulrahman Alghamdi, Hani Almalki, Aiman Shawli, Rahaf Waggass, Fahad Hakami
المصدر: Pediatric Reports, Vol 10, Iss 2 (2018)
مصطلحات موضوعية: Systemic Primary Carnitine Deficiency, SLC22A5, Dilated Cardiomyopathy, OCTN2., Medicine, Pediatrics, RJ1-570
وصف الملف: electronic resource
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5
المؤلفون: Ali S Al-Shareef, Bader Shirah, Mohammed Dabroom, Mohammed M Ahmed, Khalid A Aljohani, Mona A Al Dabbagh, Majid Ramadan, Fahad Hakami
المصدر: Cureus. 14(7)
مصطلحات موضوعية: General Engineering
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6
المؤلفون: Mohamed Al-Hamed, Wesam Kurdi, Rubina Khan, Maha Tulbah, Maha AlNemer, Nada AlSahan, Maisoon AlMugbel, Rafiullah Rafiullah, Mirna Assoum, Zuhair Rahbeeni, Nada Derar, Fahad Hakami, Gawaher Almutairi, Afaf AlOtaibi, Wafaa Ali, Amal AlShammasi, Wardah AlMubarak, Samia AlDawoud, Saja AlAmri, Bashayer Saeed, Hanifa Bukhari, Mohannad Ali, Rana Akili, Laila Alquayt, Hadeel Elbardisy, Asma Akilan, Nora Almuhana, Abrar AlKhalifah, Khushnooda Ramzan, John A. Sayer, Faiqa Imtiaz
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::28c479d7a38d1c84b474c12a6461390d
https://doi.org/10.21203/rs.3.rs-828519/v1 -
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المؤلفون: Mohamed H, Al-Hamed, Wesam, Kurdi, Rubina, Khan, Maha, Tulbah, Maha, AlNemer, Nada, AlSahan, Maisoon, AlMugbel, Rafiullah, Rafiullah, Mirna, Assoum, Dorota, Monies, Zeeshan, Shah, Zuhair, Rahbeeni, Nada, Derar, Fahad, Hakami, Gawaher, Almutairi, Afaf, AlOtaibi, Wafaa, Ali, Amal, AlShammasi, Wardah, AlMubarak, Samia, AlDawoud, Saja, AlAmri, Bashayer, Saeed, Hanifa, Bukhari, Mohannad, Ali, Rana, Akili, Laila, Alquayt, Samia, Hagos, Hadeel, Elbardisy, Asma, Akilan, Nora, Almuhana, Abrar, AlKhalifah, Mohamed, Abouelhoda, Khushnooda, Ramzan, John A, Sayer, Faiqa, Imtiaz
المصدر: Human genetics. 141(1)
مصطلحات موضوعية: Chromosome Aberrations, Genetic Variation, Microarray Analysis, Ciliopathies, Cohort Studies, Consanguinity, Fetus, Phenotype, Pregnancy, Prenatal Diagnosis, Exome Sequencing, Humans, Female, Genetic Predisposition to Disease, Genetic Testing
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8
المؤلفون: Maryam Aloqbi, Fahad Hakami, Waheed Turkistani, Naif AlShenaifi, Maher M. Aljohani, Abdulqader Al-Hebshi
المصدر: Cureus
مصطلحات موضوعية: Adenosine Deaminase 2 Deficiency, ada2, Anemia, business.industry, General Engineering, thrombocytopenia, Hematology, Gene mutation, medicine.disease, Pediatrics, stroke, anemia, vasculitis, Rheumatology, Immunology, medicine, Differential diagnosis, business, Vasculitis, Stroke, Immunodeficiency, Exome sequencing
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9دورية أكاديمية
المؤلفون: Lav Darda, Fahad Hakami, Richard Morgan, Craig Murdoch, Daniel W Lambert, Keith D Hunter
المصدر: PLoS ONE, Vol 10, Iss 4, p e0122285 (2015)
وصف الملف: electronic resource
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10
المؤلفون: Eleonora Lamantea, Robert McFarland, Langping He, Alessia Nasca, Anna Ardissone, Daniele Ghezzi, Kyle Thompson, Andrea Legati, Charlotte L. Alston, Seham Alameer, Robert W. Taylor, Fahad Hakami, Monika Oláhová, Abeer Almehdar, Juliana Heidler, Ahmad Alahmad, Ilka Wittig, Jana Meisterknecht, Manuela Spagnolo
المصدر: EMBO Molecular Medicine, Vol 12, Iss 11, Pp n/a-n/a (2020)
EMBO Molecular Medicineمصطلحات موضوعية: 0301 basic medicine, Medicine (General), Mitochondrial Diseases, Mitochondrial disease, Protein subunit, NDUFC2, Oxidative phosphorylation, QH426-470, Biology, Article, Mitochondrial Proteins, 03 medical and health sciences, R5-920, 0302 clinical medicine, Complementary DNA, Genetics, medicine, Humans, Allele, Child, Alleles, Electron Transport Complex I, complex I, Articles, medicine.disease, Leigh syndrome, OXPHOS, mitochondrial disease, 030104 developmental biology, Mutation, Molecular Medicine, Genetics, Gene Therapy & Genetic Disease, Leigh Disease, Developmental regression, 030217 neurology & neurosurgery, Biogenesis