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1دورية أكاديمية
المؤلفون: Jiandong Shen, Taoli Ding, Xueping Sun, Ji Yang, Yue Zhang, Jing Wang, Mengdi Ge, Heng Xu, Jiazi Xie, Fei Wang, Feiyang Diao
المصدر: BMC Genomics, Vol 25, Iss 1, Pp 1-10 (2024)
مصطلحات موضوعية: DMD, Long-read sequencing (LRS), Exonic duplications, Dp427c/Dp427m, Biotechnology, TP248.13-248.65, Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/1471-2164Test
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2دورية أكاديمية
المؤلفون: Wenping Zeng, Jing Lin, Jiatao Xie, Yanping Fu, Yang Lin, Tao Chen, Bo Li, Xiao Yu, Weidong Chen, Daohong Jiang, Jiasen Cheng
المصدر: mBio, Vol 15, Iss 6 (2024)
مصطلحات موضوعية: sexual development, RNA-dependent RNA polymerase, exonic small RNAs, Fusarium graminearum, Microbiology, QR1-502
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/2150-7511Test
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3دورية أكاديمية
المؤلفون: Fengjiao Pan, Ruixiao Zhang, Xuyan Liu, Xiaomeng Shi, Qing Xin, Dan Qiao, Changying Li, Yan Zhang, Mengke Chen, Wencong Guo, Shufang Luan, Leping Shao
المصدر: Frontiers in Genetics, Vol 15 (2024)
مصطلحات موضوعية: PHEX, X-linked hypophosphatemia, exonic variant, minigene assay, pre-mRNA, Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: https://www.frontiersin.org/articles/10.3389/fgene.2024.1353674/fullTest; https://doaj.org/toc/1664-8021Test
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4دورية أكاديمية
المؤلفون: Ran Zhang, Yanhua Lang, Xiaomeng Shi, Yiyin Zhang, Xuyan Liu, Fengjiao Pan, Dan Qiao, Xin Teng, Leping Shao
المصدر: Molecular Genetics & Genomic Medicine, Vol 12, Iss 2, Pp n/a-n/a (2024)
مصطلحات موضوعية: Alport syndrome, COL4A5, exon splicing, exonic variant, minigene analysis, Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/2324-9269Test
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5دورية أكاديمية
المؤلفون: Lima, Ariadne R, Ferreira, Barbara M, Zhang, Chaofan, Jolly, Angad, Du, Haowei, White, Janson J, Dawood, Moez, Lins, Tulio C, Chiabai, Marcela A, Beusekom, Ellen, Cordoba, Mara S, Rosa, Erica CC Caldas, Kayserili, Hulya, Kimonis, Virginia, Wu, Erica, Mellado, Cecilia, Aggarwal, Vineet, Richieri‐Costa, Antonio, Brunoni, Décio, Canó, Talyta M, Jorge, Alexander AL, Kim, Chong A, Honjo, Rachel, Bertola, Débora R, Dandalo‐Girardi, Raissa M, Bayram, Yavuz, Gezdirici, Alper, Yilmaz‐Gulec, Elif, Gumus, Evren, Yilmaz, Gülay C, Okamoto, Nobuhiko, Ohashi, Hirofumi, Coban–Akdemir, Zeynep, Mitani, Tadahiro, Jhangiani, Shalini N, Muzny, Donna M, Regattieri, Neysa AP, Pogue, Robert, Pereira, Rinaldo W, Otto, Paulo A, Gibbs, Richard A, Ali, Bassam R, Bokhoven, Hans, Brunner, Han G, Sutton, V Reid, Lupski, James R, Vianna‐Morgante, Angela M, Carvalho, Claudia MB, Mazzeu, Juliana F
المصدر: Human Mutation. 43(7)
مصطلحات موضوعية: Biological Sciences, Biomedical and Clinical Sciences, Genetics, Clinical Research, Pediatric, Congenital Structural Anomalies, Aetiology, 2.1 Biological and endogenous factors, Craniofacial Abnormalities, Dwarfism, Genes, Recessive, Humans, Limb Deformities, Congenital, Male, Phenotype, Receptor Tyrosine Kinase-like Orphan Receptors, Urogenital Abnormalities, chromosome microarray analysis, craniofacial morphology, exonic deletion, HPO terms, next-generation sequencing, quantitative phenotyping cluster heatmap, skeletal dysplasia, WNT pathway, Clinical Sciences, Genetics & Heredity, Clinical sciences
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/8bd0s4d7Test
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6دورية أكاديمية
المؤلفون: Yogapriya Sundaresan, Antonio Rivera, Alexey Obolensky, Prakadeeswari Gopalakrishnan, Hanit Ohayon Hadad, Aya Shemesh, Samer Khateb, Maya Ross, Ron Ofri, Sharon Durst, Hadas Newman, Rina Leibu, Shiri Soudry, Dinah Zur, Tamar Ben-Yosef, Eyal Banin, Dror Sharon
المصدر: Genes, Vol 15, Iss 6, p 804 (2024)
مصطلحات موضوعية: clinical manifestation, exonic sequence enhancer, gene expression, retinal disease, Genetics, QH426-470
وصف الملف: electronic resource
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7دورية أكاديمية
المؤلفون: Xuyan Liu, Xiaomeng Shi, Qing Xin, Zhiying Liu, Fengjiao Pan, Dan Qiao, Mengke Chen, Yiyin Zhang, Wencong Guo, Changying Li, Yan Zhang, Leping Shao, Ruixiao Zhang
المصدر: BMC Genomics, Vol 24, Iss 1, Pp 1-12 (2023)
مصطلحات موضوعية: PKD1, PKD2, Minigene assay, pre-mRNA splicing, Exonic variant, Exon skipping, Biotechnology, TP248.13-248.65, Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/1471-2164Test
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8دورية أكاديمية
المؤلفون: Annie Robic, Frieder Hadlich, Gabriel Costa Monteiro Moreira, Emily Louise Clark, Graham Plastow, Carole Charlier, Christa Kühn
المصدر: RNA Biology, Vol 21, Iss 1, Pp 52-74 (2024)
مصطلحات موضوعية: bovine circRNAs, backsplicing, circular transcriptome, Exonic circRNA, artificial circRNA, artificial annotation, Genetics, QH426-470
وصف الملف: electronic resource
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9دورية أكاديمية
المؤلفون: Nicholas Delihas
المصدر: International Journal of Molecular Sciences, Vol 25, Iss 7, p 3924 (2024)
مصطلحات موضوعية: evolution of transcriptional silencer, exonic silencer, molecular evolution, de novo ORFs, gene evolution, biased mutations, Biology (General), QH301-705.5, Chemistry, QD1-999
وصف الملف: electronic resource
العلاقة: https://www.mdpi.com/1422-0067/25/7/3924Test; https://doaj.org/toc/1661-6596Test; https://doaj.org/toc/1422-0067Test
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10دورية أكاديمية
المؤلفون: Paola De Filippi, Edoardo Errichiello, Antonio Toscano, Tiziana Mongini, Maurizio Moggio, Sabrina Ravaglia, Massimiliano Filosto, Serenella Servidei, Olimpia Musumeci, Fabio Giannini, Alberto Piperno, Gabriele Siciliano, Giulia Ricci, Antonio Di Muzio, Miriam Rigoldi, Paola Tonin, Michele Giovanni Croce, Elena Pegoraro, Luisa Politano, Lorenzo Maggi, Roberta Telese, Alberto Lerario, Cristina Sancricca, Liliana Vercelli, Claudio Semplicini, Barbara Pasanisi, Bruno Bembi, Andrea Dardis, Ilaria Palmieri, Cristina Cereda, Enza Maria Valente, Cesare Danesino
المصدر: Current Issues in Molecular Biology, Vol 45, Iss 4, Pp 2847-2860 (2023)
مصطلحات موضوعية: late-onset Pompe disease (LOPD), exonic variants, glycogen synthesis, glycogen catabolism, genotype–phenotype correlates, genetic modifiers, Biology (General), QH301-705.5
وصف الملف: electronic resource
العلاقة: https://www.mdpi.com/1467-3045/45/4/186Test; https://doaj.org/toc/1467-3037Test; https://doaj.org/toc/1467-3045Test