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1دورية أكاديمية
المصدر: International Journal of Molecular Sciences. 24(13)
مصطلحات موضوعية: Genetics, Human Genome, Humans, Silent Mutation, Transcription Factors, Gene Expression Regulation, synonymous variant, silent variant, sequence, variant interpretation, Other Chemical Sciences, Other Biological Sciences, Chemical Physics
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/1n64w8rbTest
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2دورية أكاديمية
المؤلفون: Peter Oelschlaeger
المصدر: Biomolecules, Vol 14, Iss 1, p 132 (2024)
مصطلحات موضوعية: synonymous mutation, silent mutation, codon usage bias, mRNA secondary structure, translation efficiency, genetic code, Microbiology, QR1-502
العلاقة: https://www.mdpi.com/2218-273X/14/1/132Test; https://doaj.org/toc/2218-273XTest; https://doaj.org/article/7706cea1a18e4cbca9a20dfb307c9975Test
الإتاحة: https://doi.org/10.3390/biom14010132Test
https://doaj.org/article/7706cea1a18e4cbca9a20dfb307c9975Test -
3دورية أكاديمية
المؤلفون: Ye Ji Lee, Yejin Lee, Youn Jung Kim, Zang Hee Lee, Jung-Wook Kim
المصدر: Journal of Personalized Medicine, Vol 14, Iss 2, p 191 (2024)
مصطلحات موضوعية: hereditary, splicing mutation, oligodontia, PAX9, silent mutation, Medicine
وصف الملف: electronic resource
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4دورية أكاديمية
المؤلفون: Domingo, Deepti, Nawaz, Urwah, Corbett, Mark, Espinoza, Josh, Tatton-Brown, Katrina, Coman, David, Gecz, Jozef, Jolly, Lachlan, Wilkinson, Miles
المصدر: Human Molecular Genetics. 29(15)
مصطلحات موضوعية: Cell Line, Child, Preschool, Codon, Nonsense, Gene Regulatory Networks, Humans, Infant, Loss of Function Mutation, Male, Neurodevelopmental Disorders, Nonsense Mediated mRNA Decay, RNA Splicing, RNA, Messenger, RNA-Binding Proteins, Silent Mutation, Speech Disorders
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/9ck6w1njTest
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5دورية أكاديمية
المؤلفون: Waseem Chauhan, Rafat Fatma, Zeeba Zaka-ur-Rab, Mohammad Afzal
المصدر: Journal of Medical Case Reports, Vol 16, Iss 1, Pp 1-5 (2022)
مصطلحات موضوعية: β-thalassemia, Case report, CD 41/42 (-CTTT), IVS II-666 (C>T), Compound heterozygous, Silent mutation, Medicine
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/1752-1947Test
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6دورية أكاديمية
المؤلفون: Zhengrong Wang, Yuqing Xu, Yixi Sun, Shuang Wang, Minyue Dong
المصدر: Frontiers in Pediatrics, Vol 10 (2023)
مصطلحات موضوعية: Glanzmann thrombasthenia, integrin αIIbβ3, ITGB3, silent mutation, whole exome sequencing, Pediatrics, RJ1-570
وصف الملف: electronic resource
العلاقة: https://www.frontiersin.org/articles/10.3389/fped.2022.1062900/fullTest; https://doaj.org/toc/2296-2360Test
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7دورية أكاديمية
المؤلفون: Huihui Wang, Xuanye Yang, Xinyan Hu, Jinqian Wang, Xiaoan Cao, Jinlin Zhou
مصطلحات موضوعية: Dynamics of Livestock Disease Transmission and Control, Agronomy and Crop Science, Agricultural and Biological Sciences, Life Sciences, Ribosome Structure and Translation Mechanisms, Molecular Biology, Biochemistry, Genetics and Molecular Biology, Viral Diseases in Livestock and Poultry, Animal Science and Zoology, Genetic Characterization, Phylogenetic tree, Clade, Biology, Genetics, FOS Biological sciences, Genotype, Five prime untranslated region, Mutation, Strain injury, Untranslated region, Virus, Codon usage bias, Virology, Synonymous substitution, Gene, Genome, Phylogenetics, Silent mutation, RNA, Anatomy
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8دورية أكاديمية
المؤلفون: Anna Letelier, Rolf Ljung, Anna Olsson, Nadine G. Andersson
المصدر: Molecular Genetics & Genomic Medicine, Vol 10, Iss 1, Pp n/a-n/a (2022)
مصطلحات موضوعية: exon skipping, F8 gene, hemophilia A, silent mutation, Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/2324-9269Test
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9دورية أكاديمية
المؤلفون: Youn Jung Kim, Yejin Lee, Hong Zhang, Figen Seymen, Mine Koruyucu, Sule Bayrak, Nuray Tuloglu, James P. Simmer, Jan C.-C. Hu, Jung-Wook Kim
المصدر: Journal of Personalized Medicine; Volume 12; Issue 6; Pages: 1002
مصطلحات موضوعية: hereditary, splicing mutation, dentinogenesis imperfecta, dentin sialophosphoprotein, DSPP, silent mutation, genotype−phenotype relationship
وصف الملف: application/pdf
العلاقة: Mechanisms of Diseases; https://dx.doi.org/10.3390/jpm12061002Test
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10دورية أكاديمية
المؤلفون: Kim, Youn Jung, Lee, Yejin, Zhang, Hong, Seymen, Figen, Koruyucu, Mine, Bayrak, Şule, Tüloğlu, Nuray, Simmer, James P., Hu, Jan C-C., Kim, Jung-Wook
المساهمون: Seymen, Figen
مصطلحات موضوعية: Hereditary, Splicing Mutation, Dentinogenesis Imperfecta, Dentin Sialophosphoprotein, DSPP, Silent Mutation, Genotype−Phenotype Relationship
وصف الملف: application/pdf
العلاقة: Journal of Personalized Medicine; Makale - Ulusal Hakemli Dergi - Kurum Öğretim Elemanı; Kim, Y. J., Lee, Y., Zhang, H., Seymen, F., Koruyucu, M., Bayrak, Ş., Tüloğlu, N., Simmer, J. P., Hu, Jan C-C., Kim, J. W. (2022). Translated mutant DSPP mRNA expression level impacts the severity of dentin defects. Journal of Personalized Medicine, 12(6), 1002.; https://hdl.handle.net/20.500.12939/2587Test; 12