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1دورية أكاديمية
المؤلفون: Sheng-Jia Lin, Barbara Vona, Tracy Lau, Kevin Huang, Maha S. Zaki, Huda Shujaa Aldeen, Ehsan Ghayoor Karimiani, Clarissa Rocca, Mahmoud M. Noureldeen, Ahmed K. Saad, Cassidy Petree, Tobias Bartolomaeus, Rami Abou Jamra, Giovanni Zifarelli, Aditi Gotkhindikar, Ingrid M. Wentzensen, Mingjuan Liao, Emalyn Elise Cork, Pratishtha Varshney, Narges Hashemi, Mohammad Hasan Mohammadi, Aboulfazl Rad, Juanita Neira, Mehran Beiraghi Toosi, Cordula Knopp, Ingo Kurth, Thomas D. Challman, Rebecca Smith, Asmahan Abdalla, Thomas Haaf, Mohnish Suri, Manali Joshi, Wendy K. Chung, Andres Moreno-De-Luca, Henry Houlden, Reza Maroofian, Gaurav K. Varshney
المصدر: Genome Medicine, Vol 15, Iss 1, Pp 1-24 (2023)
مصطلحات موضوعية: 2-oxo acid dehydrogenase, OGDHL, Genetic compensation, Disease model, Zebrafish, Neurodevelopmental disorders, Medicine, Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/1756-994XTest
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2دورية أكاديمية
المؤلفون: Asmahan Abdalla, Mohammed Abdulrahman Alhassan, Reem Tawfeeg, Ayman Sanad, Hasan Tawamie, Mohamed Abdullah
المصدر: Endocrinology, Diabetes & Metabolism Case Reports, Vol 1, Iss 1, Pp 1-6 (2021)
مصطلحات موضوعية: Diseases of the endocrine glands. Clinical endocrinology, RC648-665
وصف الملف: electronic resource
العلاقة: https://edm.bioscientifica.com/view/journals/edm/2021/1/EDM21-0010.xmlTest; https://doaj.org/toc/2052-0573Test
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3دورية أكاديمية
المؤلفون: Sheng‐Jia Lin, Barbara Vona, Tracy Lau, Kevin Huang, Maha S. Zaki, Huda Shujaa Aldeen, Ehsan Ghayoor Karimiani, Clarissa Rocca, Mahmoud M. Noureldeen, Ahmed K. Saad, Cassidy Petree, Tobias Bartolomaeus, Rami Abou Jamra, Giovanni Zifarelli, Aditi Gotkhindikar, Ingrid M. Wentzensen, Min Liao, Emalyn Cork, Pratishtha Varshney, Narges Hashemi, Mohammad Hasan Mohammadi, Abolfazl Rad, Juanita Neira, Mehran Beiraghi Toosi, Cordula Knopp, Ingo Kurth, Thomas D. Challman, Rebecca Smith, Asmahan Abdalla, Thomas Haaf, Mohnish Suri, M. P. Joshi, Wendy K. Chung, Andres Moreno‐De‐Luca, Henry Houlden, Reza Maroofian, Gaurav K. Varshney
مصطلحات موضوعية: Standards and Guidelines for Genetic Variant Interpretation, Genetics, FOS Biological sciences, Biochemistry, Genetics and Molecular Biology, Life Sciences, Metabolic Disorders and Biochemical Genetics, Clinical Biochemistry, Epigenetic Modifications and Their Functional Implications, Molecular Biology, Epigenetic Reprogramming, Biology, Phenotype, Zebrafish, Human genetics, Genetic heterogeneity, Allele, Allelic heterogeneity, Mendelian inheritance, Gene, CRISPR, Computational biology, Genotype
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4
المؤلفون: Sheng-Jia Lin, Barbara Vona, Tracy Lau, Kevin Huang, Maha S. Zaki, Huda Shujaa Aldeen, Ehsan Ghayoor Karimiani, Clarissa Rocca, Mahmoud M. Noureldeen, Ahmed K. Saad, Cassidy Petree, Tobias Bartolomaeus, Rami Abou Jamra, Giovanni Zifarelli, Aditi Gotkhindikar, Ingrid M. Wentzensen, Mingjuan Liao, Emalyn Elise Cork, Pratishtha Varshney, Narges Hashemi, Mohammad Hasan Mohammadi, Aboulfazl Rad, Juanita Neira, Mehran Beiraghi Toosi, Cordula Knopp, Ingo Kurth, Thomas D. Challman, Rebecca Smith, Asmahan Abdalla, Thomas Haaf, Mohnish Suri, Manali Joshi, Wendy K. Chung, Andres Moreno-De-Luca, Henry Houlden, Reza Maroofian, Gaurav K. Varshney
مصطلحات موضوعية: Genetics, 2-oxo acid dehydrogenase, OGDHL, Genetic compensation, Disease model, Zebrafish, Neurodevelopmental disorders, Mitochondria, Variant testing
الإتاحة: https://doi.org/10.6084/m9.figshare.24670002.v1Test
https://figshare.com/articles/dataset/Additional_file_1_of_Evaluating_the_association_of_biallelic_OGDHL_variants_with_significant_phenotypic_heterogeneity/24670002Test