المؤلفون: Donghu Zhou, Huaduan Zi, Xiaoxi Yang, Xiaojin Li, Yanmeng Li, Anjian Xu, Bei Zhang, Wei Zhang, Xiaojuan Ou, Jidong Jia, Jian Huang, Hong You

المصدر: Cellular and Molecular Gastroenterology and Hepatology, Vol 19, Iss 2, Pp 101418- (2025)

مصطلحات موضوعية: ATP7B, Cellular Localization, COMMD1, Protein Stability, Splicing Mutation, Wilson Disease, Diseases of the digestive system. Gastroenterology, RC799-869

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2352345X24001735; https://doaj.org/toc/2352-345X

URL الوصول: https://doaj.org/article/9f706b19e13f4b33b71f93fef9e223bc

المؤلفون: Xiu-juan Yao, Qian Chen, Hong-ping Yu, Dan-dan Ruan, Shi-jie Li, Min Wu, Li-sheng Liao, Xin-fu Lin, Zhu-ting Fang, Jie-wei Luo, Bao-song Xie

المصدر: BMC Pulmonary Medicine, Vol 24, Iss 1, Pp 1-13 (2024)

مصطلحات موضوعية: Primary ciliary dyskinesia, Primary familial brain calcification, DNAH5, MYORG, Splicing mutation, Diseases of the respiratory system, RC705-779

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1471-2466

URL الوصول: https://doaj.org/article/15b90ce4c538442da7531ae5b746bca1

المؤلفون: Hui-Qin Wang, Pei-Kuan Cong, Tian He, Xiao-Feng Yu, Ya-Nan Huo

المصدر: International Journal of Ophthalmology, Vol 16, Iss 10, Pp 1595-1600 (2023)

مصطلحات موضوعية: retinitis pigmentosa, x-linked inheritance, rpgr, splicing mutation, pspl3 minigene assay, Ophthalmology, RE1-994

وصف الملف: electronic resource

Relation: http://ies.ijo.cn/en_publish/2023/10/20231006.pdf; https://doaj.org/toc/2222-3959; https://doaj.org/toc/2227-4898

URL الوصول: https://doaj.org/article/fda00ba7f8c640b4bcdb5e6e1134388f

المؤلفون: DAI Zhuo, LI Lili, ZHANG Xiaoxin, MOU Yongbin, CHEN Bin

المصدر: 口腔疾病防治, Vol 31, Iss 8, Pp 552-558 (2023)

مصطلحات موضوعية: tooth agenesis, non-syndrome, splicing mutation, whole-exome sequencing, wnt6 gene, pax9 gene, msx1 gene, single nucleotide polymorphisms, Medicine

وصف الملف: electronic resource

Relation: https://www.kqjbfz.com/CN/10.12016/j.issn.2096-1456.2023.08.003; https://doaj.org/toc/2096-1456

URL الوصول: https://doaj.org/article/82c621b729dc47f1915f1e6fb8d3c0bb

المؤلفون: Di Fu, Shuai Wang, Yonghong Luo, Sha Wu, Daoquan Peng

المصدر: ESC Heart Failure, Vol 10, Iss 4, Pp 2479-2486 (2023)

مصطلحات موضوعية: Danon disease, LAMP2, Splicing mutation, Genetic diagnosis, Minigene assay, Diseases of the circulatory (Cardiovascular) system, RC666-701

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2055-5822

URL الوصول: https://doaj.org/article/607fff5fdbb348af84e9d99065cb341b

المؤلفون: Yang Wang, Tao Liu, Jiaqi Liu, Yan Xiang, Lan Huang, Jiacheng Li, Xizhou An, Shengyan Cui, Zishuai Feng, Jie Yu

المصدر: BMC Medical Genomics, Vol 16, Iss 1, Pp 1-9 (2023)

مصطلحات موضوعية: Glucose phosphate isomerase deficiency, Splicing mutation, Missense mutation, Minigene, Haemolytic anaemia, Internal medicine, RC31-1245, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1755-8794

URL الوصول: https://doaj.org/article/b54b4b5c35c14e958b5863628a1661a4

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

Relation: https://www.mdpi.com/2075-4426/14/2/191; https://doaj.org/toc/2075-4426; https://doaj.org/article/5e73c4896777415496c8d784736128a1

الاتاحة: https://doi.org/10.3390/jpm14020191
https://doaj.org/article/5e73c4896777415496c8d784736128a1

المؤلفون: LIU Zhouliang, YANG Chao, WANG Huijun, LIN Zhimiao

المصدر: 罕见病研究, Vol 2, Iss 2, Pp 178-185 (2023)

مصطلحات موضوعية: basan syndrome, smarcad1 gene, adermatoglyphia, splicing mutation, Medicine

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2097-0501

URL الوصول: https://doaj.org/article/eb1fed77501a444b934d90bddf7c9c06

المؤلفون: Guoming Chu, Pingping Li, Qian Zhao, Rong He, Yanyan Zhao

المصدر: Reproductive Biology and Endocrinology, Vol 21, Iss 1, Pp 1-10 (2023)

مصطلحات موضوعية: Kallmann syndrome, ANOS1, FGFR1, Splicing mutation, Minigene, Gynecology and obstetrics, RG1-991, Reproduction, QH471-489

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1477-7827

URL الوصول: https://doaj.org/article/05ebd8f62d2f462b8aead95ce192f341

المؤلفون: Yuting Wen, Luo Yang, Gan Shen, Siyu Dai, Jing Wang, Xiang Wang

المصدر: Frontiers in Pediatrics, Vol 11 (2023)

مصطلحات موضوعية: DMD, Duchenne muscular dystrophy, preimplantation genetic diagnosis, splicing mutation, case report, Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fped.2023.1261318/full; https://doaj.org/toc/2296-2360

URL الوصول: https://doaj.org/article/7fdcef1ad38442f0aee6e3c7c70bc659

المؤلفون: Yi Ren, Jiajia Wang, Shuang Li, Jiajia Lei, Yunfeng Liu, Yan Wang, Fei Gao, Jianhong Wang, Jianhong Yin, Jing Yang

المصدر: Frontiers in Genetics, Vol 14 (2023)

مصطلحات موضوعية: hydroxymethylbilane synthase gene, acute intermittent porphyria, splicing mutation, minigene, molecular analysis, porphyria, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2023.1291472/full; https://doaj.org/toc/1664-8021

URL الوصول: https://doaj.org/article/1136e6121fbc41f59d599f06d38c7438

المؤلفون: Haiyan Tang, Yingying Luo, Zhenchu Tang, Jianguang Tang, Jia Fang

المصدر: Frontiers in Neurology, Vol 14 (2023)

مصطلحات موضوعية: episodic psychosis, peroxisomal beta-oxidation, SCPx deficiency, SCP2 mutation, splicing mutation, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fneur.2023.1270793/full; https://doaj.org/toc/1664-2295

URL الوصول: https://doaj.org/article/09077b1ccc404605ad113eee3c931fe2

المؤلفون: Qian Zhang, Shuya Yang, Xin Chen, Hongdan Wang, Keyan Li, Chaonan Zhang, Shixiu Liao, Litao Qin, Qiaofang Hou

المصدر: Frontiers in Genetics, Vol 14 (2023)

مصطلحات موضوعية: Meckel Syndrome, TMEM231 gene, whole exome sequencing, splicing mutation, alternative transcription, primary cilia, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2023.1252873/full; https://doaj.org/toc/1664-8021

URL الوصول: https://doaj.org/article/63832186ae2e43a78d25656518c27fda

المؤلفون: Frontiers Production Office

المصدر: Frontiers in Genetics, Vol 14 (2023)

مصطلحات موضوعية: Fanconi anemia, somatic mosaicism, splicing mutation, de novo variant, natural gene therapy, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2023.1293778/full; https://doaj.org/toc/1664-8021

URL الوصول: https://doaj.org/article/11a4b411408f46f3bd0fc7c5a763eb65

المؤلفون: Wu T, Yang H, Xu L, Huang Q, He Q, Wu R, Mu YZ

المصدر: Clinical, Cosmetic and Investigational Dermatology, Vol Volume 15, Pp 2345-2351 (2022)

مصطلحات موضوعية: neurofibromatosis type 1, gene, splicing mutation, sequencing, Dermatology, RL1-803

وصف الملف: electronic resource

Relation: https://www.dovepress.com/nf1-gene-novel-splicing-mutations-in-a-chinese-family-with-neurofibrom-peer-reviewed-fulltext-article-CCID; https://doaj.org/toc/1178-7015

URL الوصول: https://doaj.org/article/71248c5ad55c4c78851c5356bdec0d02

المؤلفون: YANG Yu-fan, ZHAO Ya-ling, WANG Xi, NIE Min, WU Xue-yan, MAO Jiang-feng

المصدر: Jichu yixue yu linchuang, Vol 42, Iss 10, Pp 1492-1496 (2022)

مصطلحات موضوعية: micropenis, luteinizing hormone/choriogonadotropin receptor(lhcgr), splicing mutation, Medicine

وصف الملف: electronic resource

Relation: http://journal11.magtechjournal.com/Jwk_jcyxylc/fileup/1001-6325/PDF/1001-6325-2022-42-10-1492.pdf; https://doaj.org/toc/1001-6325

URL الوصول: https://doaj.org/article/53e8d39789514827ac49fbbe0a80fc5e

المؤلفون: Shaoguang Lv, Yuanyuan Wu, Fang Liu, Baoquan Jiao

المصدر: Frontiers in Pediatrics, Vol 11 (2023)

مصطلحات موضوعية: spondylocostal dysostosis 4 (SCDO4), HES7 gene, alternative splicing mutation, minigene analysis, case report, Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fped.2023.1201999/full; https://doaj.org/toc/2296-2360

URL الوصول: https://doaj.org/article/1f7a1b3a8223414d9a5e45c27d89a953

المؤلفون: Ilaria Persico, Giorgia Fontana, Michela Faleschini, Melania Eva Zanchetta, Daniele Ammeti, Enrico Cappelli, Fabio Corsolini, Clara Mosa, Angela Guarina, Massimo Bogliolo, Jordi Surrallés, Carlo Dufour, Piero Farruggia, Anna Savoia, Roberta Bottega

المصدر: Frontiers in Genetics, Vol 14 (2023)

مصطلحات موضوعية: Fanconi anemia, somatic mosaicism, splicing mutation, de novo variant, natural gene therapy, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2023.1209138/full; https://doaj.org/toc/1664-8021

URL الوصول: https://doaj.org/article/c362a4450ed34036b2c2c9e8d32928b8

المؤلفون: Ying Su, Chun-Qiong Ran, Zhe-Long Liu, Yan Yang, Gang Yuan, Shu-Hong Hu, Xue-Feng Yu, Wen-Tao He

المصدر: Frontiers in Genetics, Vol 14 (2023)

مصطلحات موضوعية: Col11a2, splicing mutation, case report, type 3 Stickler syndrome, genetic counseling, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2023.1154087/full; https://doaj.org/toc/1664-8021

URL الوصول: https://doaj.org/article/0651f81d43d04cea899c7b6b3d73ce42

المؤلفون: Hiroshi Kataoka, Rie Yoshida, Naomi Iwasa, Masayo Sato, Shun Manabe, Keiko Kawachi, Shiho Makabe, Taro Akihisa, Yusuke Ushio, Atsuko Teraoka, Ken Tsuchiya, Kosaku Nitta, Toshio Mochizuki

المصدر: Kidney International Reports, Vol 7, Iss 3, Pp 537-546 (2022)

مصطلحات موضوعية: autosomal dominant polycystic kidney disease, frameshift mutation, germline mutation, kidney volume, Mayo imaging classification, splicing mutation, Diseases of the genitourinary system. Urology, RC870-923

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2468024921016028; https://doaj.org/toc/2468-0249

URL الوصول: https://doaj.org/article/cba8563438b1439eb923676148078d1c