المؤلفون: Wang, Jiayun, Yan, Lingyan, Wang, Xu, Jia, Rong^{Aff1, Aff2}, Guo, Jihua^{Aff1, Aff3, IDs00011024018874_cor5}

المصدر: Inflammation Research. 73(7):1123-1135

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

Relation: https://doaj.org/toc/1471-2164

URL الوصول: https://doaj.org/article/7c2e136828244e9d98c21c38f97d1f51

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

Relation: https://doaj.org/toc/2150-7511

URL الوصول: https://doaj.org/article/eee127094d9741a0b08849f39876957c

المؤلفون: Liu, Xuyan, Shi, Xiaomeng, Xin, Qing, Liu, Zhiying, Pan, Fengjiao, Qiao, Dan, Chen, Mengke, Zhang, Yiyin, Guo, Wencong, Li, Changying, Zhang, Yan, Shao, Leping^{Aff1, IDs12864023094449_cor12}, Zhang, Ruixiao^{Aff6, IDs12864023094449_cor13}

المصدر: BMC Genomics. 24(1)

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

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2024.1353674/full; https://doaj.org/toc/1664-8021

URL الوصول: https://doaj.org/article/645763076f2b49b2a0327a68bc254522

المؤلفون: Sundaresan, Yogapriya^Aff13, Banin, Eyal^Aff13, Sharon, Dror^Aff13

المساهمون: Crusio, Wim E., Series Editor^Aff1, Dong, Haidong, Series Editor^Aff2, Radeke, Heinfried H., Series Editor^Aff3, Rezaei, Nima, Series Editor^Aff4, Steinlein, Ortrud, Series Editor^Aff5, Xiao, Junjie, Series Editor^Aff6, Ash, John D., editor^Aff7, Pierce, Eric, editor^Aff8, Anderson, Robert E., editor^Aff9, Bowes Rickman, Catherine, editor^Aff10, Hollyfield, Joe G., editor^Aff11, Grimm, Christian, editor^Aff12

المصدر: Retinal Degenerative Diseases XIX : Mechanisms and Experimental Therapy. 1415:183-187

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

URL الوصول: https://escholarship.org/uc/item/8bd0s4d7

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

Relation: https://www.mdpi.com/2073-4425/15/6/804; https://doaj.org/toc/2073-4425

URL الوصول: https://doaj.org/article/586c2808fa8c4ba4aec928c15384719d

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

Relation: https://doaj.org/toc/2324-9269

URL الوصول: https://doaj.org/article/e5e85b9bb18747efb15524a019e0b621

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

Relation: https://doaj.org/toc/1471-2164

URL الوصول: https://doaj.org/article/f5715f55bb2b42f5894b66d609e557c4