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1دورية أكاديمية
المؤلفون: Nadia A. Akawi, Salma Ben-Salem, Jozef Hertecant, Anne John, Thachillath Pramathan, Praseetha Kizhakkedath, Bassam R. Ali, Lihadh Al-Gazali
المصدر: Orphanet Journal of Rare Diseases, Vol 11, Iss 1, Pp 1-9 (2016)
مصطلحات موضوعية: ELAC2, Mitochondrial disorder, 5′ end unprocessed mt-RNAs, Splice site mutation, Intellectual disability, Respiratory chain complex I (RCCI) deficiency, Medicine
وصف الملف: electronic resource
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2دورية أكاديمية
المؤلفون: Bassam R Ali, Imen Ben-Rebeh, Anne John, Nadia A Akawi, Reham M Milhem, Nouf A Al-Shehhi, Mouza M Al-Ameri, Shamma A Al-Shamisi, Lihadh Al-Gazali
المصدر: PLoS ONE, Vol 6, Iss 10, p e26206 (2011)
وصف الملف: electronic resource
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3
المؤلفون: Salma, Ben-Salem, Sarah M, Robbins, Nara, Lm Sobreira, Angeline, Lyon, Aisha M, Al-Shamsi, Barira K, Islam, Nadia A, Akawi, Anne, John, Pramathan, Thachillath, Sania, Al Hamed, David, Valle, Bassam R, Ali, Lihadh, Al-Gazali
المصدر: J Med Genet
مصطلحات موضوعية: Corneal Dystrophies, Hereditary, Male, Chromosomes, Human, Pair 11, Developmental Disabilities, Homozygote, Infant, Newborn, Phospholipase C beta, Osteochondrodysplasias, Phosphatidylinositols, Article, Pedigree, Amino Acid Substitution, Child, Preschool, Intellectual Disability, Humans, Female, Child, Signal Transduction
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4
المؤلفون: Bassam R, Ali, Jozef L, Hertecant, Fatima A, Al-Jasmi, Mohamed A, Hamdan, Sawsan F, Khuri, Nadia A, Akawi, Lihadh I, Al-Gazali
المصدر: Saudi medical journal. 32(4)
مصطلحات موضوعية: Genetics, Population, Mutation, Humans, United Arab Emirates, Metabolism, Inborn Errors, Retrospective Studies
URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::63809d08945eb688522800b7d32a7d19
https://pubmed.ncbi.nlm.nih.gov/22057618 -
5دورية أكاديمية
المؤلفون: Rula Y Qumsieh, Bassam R Ali, Yousef M Abdulrazzaq, Ossama Osman, Nadia A Akawi, Salim M A Bastaki
المصدر: PLoS ONE, Vol 6, Iss 12, p e28943 (2011)
وصف الملف: electronic resource