-
1دورية أكاديمية
المؤلفون: McMahon, Moira, Rahdar, Meghdad, Mukhopadhyay, Swagatam, Bui, Huynh-Hoa, Hart, Christopher, Damle, Sagar, Courtney, Margo, Baughn, Michael, Cleveland, Don, Bennett, C
مصطلحات موضوعية: ASO, CRISPR-Cas, GOLGA8, Golgi, MT: Oligonucleotides: Therapies and Applications, antisense oligonucleotide, gene activation, gene knockdown, gene splicing
وصف الملف: application/pdf
URL الوصول: https://escholarship.org/uc/item/5gd42690
-
2دورية أكاديمية
المؤلفون: Hao Wu, Jin-Huan Lin, Xin-Ying Tang, Gaëlle Marenne, Wen-Bin Zou, Sacha Schutz, Emmanuelle Masson, Emmanuelle Génin, Yann Fichou, Gerald Le Gac, Claude Férec, Zhuan Liao, Jian-Min Chen
المصدر: Human Genomics, Vol 18, Iss 1, Pp 1-23 (2024)
مصطلحات موضوعية: Chronic pancreatitis, Full-length gene splicing assay (FLGSA), Precision medicine in genetics, Pre-mRNA splicing, Single-nucleotide variants (SNVs), SpliceAI, Medicine, Genetics, QH426-470
وصف الملف: electronic resource
Relation: https://doaj.org/toc/1479-7364
-
3دورية أكاديمية
المؤلفون: Yanchi Wang, Wenbin Niu, Hao Shi, Xiao Bao, Yidong Liu, Manman Lu, Yingpu Sun
المصدر: Frontiers in Genetics, Vol 15 (2024)
مصطلحات موضوعية: disheveled, EGL-10, and pleckstrin domain-containing protein 5, focal epilepsy, gene variation, mini-gene splicing assay, mTORC1 pathway, Genetics, QH426-470
وصف الملف: electronic resource
-
4دورية أكاديمية
المؤلفون: Waheed, Zuha, Choudhary, Jawaria, Jatala, Faria Hasan, Fatimah, Noor, AneeqaAff1, IDs12035023033878_cor5, Zerr, Inga, Zafar, SaimaAff1, Aff2
المصدر: Molecular Neurobiology. 60(9):5155-5166
-
5دورية أكاديمية
المؤلفون: Al-Dossary, OthmanAff1, Aff2, Furtado, Agnelo, KharabianMasouleh, Ardashir, Alsubaie, BaderAff1, Aff2, Al-Mssallem, Ibrahim, Henry, Robert J.Aff1, Aff3, IDs13007023010911_cor6
المصدر: Plant Methods. 19(1)
-
6دورية أكاديمية
المؤلفون: Othman Al-Dossary, Agnelo Furtado, Ardashir KharabianMasouleh, Bader Alsubaie, Ibrahim Al-Mssallem, Robert J. Henry
المصدر: Plant Methods, Vol 19, Iss 1, Pp 1-17 (2023)
مصطلحات موضوعية: Jojoba, Transcriptome, Iso-Seq, Isoforms, Simmondsia chinensis, Gene splicing, Plant culture, SB1-1110, Biology (General), QH301-705.5
وصف الملف: electronic resource
Relation: https://doaj.org/toc/1746-4811
-
7دورية أكاديمية
المؤلفون: Wu, HaoAff1, Aff2, Lin, Jin-HuanAff1, Aff2, Tang, Xin-YingAff3, Aff2, Marenne, Gaëlle, Zou, Wen-BinAff1, Aff2, Schutz, SachaAff4, Aff5, Masson, EmmanuelleAff4, Aff5, Génin, Emmanuelle, Fichou, Yann, Le Gac, GeraldAff4, Aff5, Férec, Claude, Liao, ZhuanAff1, Aff2, IDs40246024005869_cor12, Chen, Jian-MinAff4, IDs40246024005869_cor13
المصدر: Human Genomics. 18(1)
-
8دورية أكاديمية
المؤلفون: Sanders, Stephan J, Schwartz, Grace B, Farh, Kyle Kai-How
المصدر: Genome Medicine. 12(1)
مصطلحات موضوعية: Biological Sciences, Bioinformatics and Computational Biology, Genetics, Human Genome, Brain Disorders, Neurosciences, Intellectual and Developmental Disabilities (IDD), Aetiology, 2.1 Biological and endogenous factors, Humans, Neurodevelopmental Disorders, RNA Splicing, Gene splicing, Isoform, SpliceAI, Autism spectrum disorder, Developmental delay, Clinical exome sequencing, Cryptic splice site, Canonical splice site, Polypyrimidine tract, Antisense oligonucleotide, Clinical Sciences
وصف الملف: application/pdf
URL الوصول: https://escholarship.org/uc/item/0s11z78z
-
9دورية أكاديمية
المؤلفون: Ge Wang, Yanli Wang, Chao Gao, Wanqin Xie
المصدر: Frontiers in Molecular Neuroscience, Vol 16 (2023)
مصطلحات موضوعية: global developmental delay, endoplasmic reticulum-membrane protein complex, synonymous mutation, gene splicing, genetic diagnosis, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571
وصف الملف: electronic resource
-
10دورية أكاديمية
المؤلفون: Zhang, Yifeng, Sun, Yingchun, Wu, Zhongzi, Xiong, Xinwei, Zhang, Junjie, Ma, Junwu, Xiao, Shijun, Huang, LushengAff1, Yang, BinAff1
المصدر: Science China Life Sciences. 64(10):1732-1746