المؤلفون: Huaqiang Xia, Juan Zhang, Wuyuan Mao, Kangle Yi, Teng Wang, Lingyan Liao

المصدر: Basic and Clinical Andrology, Vol 34, Iss 1, Pp 1-8 (2024)

مصطلحات موضوعية: Acephalic spermatozoa syndrome, Polyamine-modulated factor 1 binding protein 1 (PMFBP1), Splice-site mutation, Medicine (General), R5-920

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2051-4190

URL الوصول: https://doaj.org/article/a0a37306841d45d9ba10cd66b39f50a4

المؤلفون: Elisabetta Toriello, Rosa Maritato, Antonio De Rosa, Maria Valeria Esposito, Carla Damiano, Carmen Rosano, Emilia Cirillo, Antonietta Tarallo, Cosimo Abagnale, Francesca Cillo, Roberta Romano, Laura Grilli, Marika Comegna, Giancarlo Blasio, Giancarlo Parenti, Enrico Maria Surace, Giuseppe Castaldo, Claudio Pignata, Giuliana Giardino

المصدر: Frontiers in Immunology, Vol 16 (2025)

مصطلحات موضوعية: Wiskott-Aldrich, WASP, splice-site mutation, next-generation sequencing (NGS), gene panel, Immunologic diseases. Allergy, RC581-607

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fimmu.2025.1517347/full; https://doaj.org/toc/1664-3224

URL الوصول: https://doaj.org/article/c1f0b4d1c75c4b8582243f632305745b

المؤلفون: Maud Turquand, Ana Rita Justo Da Silva, Thibaut Pralon, Fiamma Longoni, Felix Kessler, Joy Collombat

المصدر: Frontiers in Plant Science, Vol 15 (2024)

مصطلحات موضوعية: chloroplast, atypical kinase ABC1K1, photosynthesis, active site mutation, complementation, Plant culture, SB1-1110

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fpls.2024.1491719/full; https://doaj.org/toc/1664-462X

URL الوصول: https://doaj.org/article/a8e06c771206420ca143f7fe96f60fbd

المؤلفون: Jing Wang, Qiuying Li, Hongyu Li, Xiu Liu, Ying Hu, Yuxing Bai, Kai Yang

المصدر: Heliyon, Vol 10, Iss 22, Pp e40277- (2024)

مصطلحات موضوعية: Cleidocranial dysplasia, RUNX2, Splice-site mutation, DPCR, Chinese population, Science (General), Q1-390, Social sciences (General), H1-99

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2405844024163086; https://doaj.org/toc/2405-8440

URL الوصول: https://doaj.org/article/6ae19b42480c4e6bb9d515aa42a2e021

المؤلفون: Jia Huang, Zhiyu Li, Fulin Ge, Chao Sun, Zixin Deng, Weiyan Yao, Xinyi He

المصدر: Frontiers in Cell and Developmental Biology, Vol 12 (2024)

مصطلحات موضوعية: RdxA site-mutation, Metronidazole resistance, Helicobacter pylori, Hp infection in Shanghai, Nucleic acid SNP detection, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fcell.2024.1435064/full; https://doaj.org/toc/2296-634X

URL الوصول: https://doaj.org/article/e73a327e9c7444d2ac8e19d614688366

المؤلفون: Cosmos M. Pambit Zong, Sylvester Coleman, Abdul Rahim Mohammed, Christopher M. Owusu-Asenso, Yaw Akuamoah-Boateng, Isaac K. Sraku, Simon K. Attah, Liwang Cui, Yaw A. Afrane

المصدر: Malaria Journal, Vol 23, Iss 1, Pp 1-8 (2024)

مصطلحات موضوعية: Anopheles gambiae s.l., Insecticide resistance, Target-site mutation, Clothianidin, Indoor residual spraying, Ghana, Arctic medicine. Tropical medicine, RC955-962, Infectious and parasitic diseases, RC109-216

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1475-2875

URL الوصول: https://doaj.org/article/e94fa305e6214c60af5c6dff7560edfa

المؤلفون: Xiaohui Fu, Shuli Chen, Xiao Huang, Qinghua Lu, Yunfei Cui, Weinan Lin, Qin Yang

المصدر: Frontiers in Endocrinology, Vol 15 (2024)

مصطلحات موضوعية: MTX2 gene, mandibular hypoplasia (MAD) syndrome, progeria syndrome, splice-site mutation, exon skipping, Diseases of the endocrine glands. Clinical endocrinology, RC648-665

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fendo.2024.1345067/full; https://doaj.org/toc/1664-2392

URL الوصول: https://doaj.org/article/eeff7e97e36b4fdbafa3861119eb0a2c

المؤلفون: Maria Fourikou, Aristea Karipiadou, Athina Ververi, Parthena Savvidou, Nikolaos Laliotis, Vassilios Tsitouras, Stella Stabouli, Emmanuel Roilides, Konstantinos Kollios

المصدر: Bone Reports, Vol 20, Iss , Pp 101731- (2024)

مصطلحات موضوعية: X-linked hypophosphatemia, Rickets, Phosphate-regulating gene with homologies to endopeptidases on the X chromosome (PHEX), Chiari syndrome, Craniosynostosis, Splice-site mutation, Diseases of the musculoskeletal system, RC925-935

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2352187223000773; https://doaj.org/toc/2352-1872

URL الوصول: https://doaj.org/article/20b6e610127548acadfb8967d705a950

المؤلفون: Fidel González‐Torralva, Jason K. Norsworthy

المصدر: Plant Direct, Vol 8, Iss 3, Pp n/a-n/a (2024)

مصطلحات موضوعية: ACCase, herbicide resistance, johnsongrass, target‐site mutation, Botany, QK1-989

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2475-4455

URL الوصول: https://doaj.org/article/df4d8205975045bfa024114cfa5745fb

المؤلفون: France-Paraudie A. Kouadio, Nadja C. Wipf, Angele S. Nygble, Behi K. Fodjo, Christabelle G. Sadia, John Vontas, Konstantinos Mavridis, Pie Müller, Chouaïbou S. Mouhamadou

المصدر: Parasites & Vectors, Vol 16, Iss 1, Pp 1-12 (2023)

مصطلحات موضوعية: Agriculture, Insecticide resistance, P450 genes, Gene expression, Target-site mutation, Malaria vectors, Infectious and parasitic diseases, RC109-216

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1756-3305

URL الوصول: https://doaj.org/article/413b4649844d4099b2f09523ea35b704

المؤلفون: Myriem Chtourou, Maria Dolores Osuna, Germán Mora Marín, Zeineb Hada, Joel Torra, Thouraya Souissi

المصدر: Agronomy, Vol 14, Iss 6, p 1249 (2024)

مصطلحات موضوعية: synthetic auxin herbicides, ALS inhibitor, enhanced metabolism, target site mutation, Agriculture

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2073-4395/14/6/1249; https://doaj.org/toc/2073-4395

URL الوصول: https://doaj.org/article/ed5eb7094a354cc8ae89a35b20f0a9e0

المؤلفون: William J. Waldock, Laura J. Taylor, Sian Sperring, Federica Staurenghi, Cristina Martinez-Fernandez de la Camara, Jennifer Whitfield, Penny Clouston, Imran H. Yusuf, Robert E. MacLaren

مصطلحات موضوعية: Medicine, Genetics, Molecular Biology, Developmental Biology, Cancer, Infectious Diseases, Virology, Computational Biology, Environmental Sciences not elsewhere classified, Choroideremia, gene therapy, splice site mutation, genetic analysis

Relation: https://figshare.com/articles/journal_contribution/A_hypomorphic_variant_of_choroideremia_is_associated_with_a_novel_intronic_mutation_that_leads_to_exon_skipping/25067703

الاتاحة: https://doi.org/10.6084/m9.figshare.25067703.v1
https://figshare.com/articles/journal_contribution/A_hypomorphic_variant_of_choroideremia_is_associated_with_a_novel_intronic_mutation_that_leads_to_exon_skipping/25067703

المؤلفون: Anastazia Jablunovsky, Anoop Narayanan, Joyce Jose

مصطلحات موضوعية: Microbiology, Genetics, Molecular Biology, Biotechnology, Evolutionary Biology, Cancer, Infectious Diseases, Virology, Computational Biology, persistent health concerns, partially restored phenotype, molecular interactions involved, infectious cdna clone, induced diseases require, including genome packaging, highly attenuated phenotype, first experimental evidence, exposed amino acids, endemic regions worldwide, alanine scanning mutagenesis, vero e6 cells, div >< p, c &# 945, viral envelope protein, second site mutation, >- transmitted flaviviruses, zikv virion production, purified c protein, flavivirus capsid protein, c α3 revealed

Relation: https://figshare.com/articles/journal_contribution/List_of_primers_used_for_mutagenesis_and_cloning_/24931958

الاتاحة: https://doi.org/10.1371/journal.pntd.0011873.s004
https://figshare.com/articles/journal_contribution/List_of_primers_used_for_mutagenesis_and_cloning_/24931958

المؤلفون: Chtourou, Myriem, Osuna, Maria D., Vázquez-García, José G., Lozano-Juste, Jorge, De Prado, Rafael, Torra Farré, Joel, Souissi, Thouraya

مصطلحات موضوعية: ALS inhibitor, Cytochrome P450 monooxygenases, Ligand docking, Non-target site mutation

Relation: info:eu-repo/grantAgreement/AEI/Plan Estatal de Investigación Científica y Técnica y de Innovación 2013-2016/AGL2017-83325-C4-2-R/ES/GESTION DE MALAS HIERBAS EN CEERALES Y VIÑA MEDIANTE LA INTEGRACION DE SISTEMAS DE MANEJO Y HERRAMIENTAS DE DECISION/; info:eu-repo/grantAgreement/AEI/Plan Estatal de Investigación Científica y Técnica y de Innovación 2017-2020/PID2020-113229RB-C42/ES/INTEGRACION DE HERRAMIENTAS AGRONOMICAS Y TECNOLOGICAS EN LA DETECCION Y MANEJO DE MALAS HIERBAS/; Reproducció del document publicat a https://doi.org/10.1016/j.pestbp.2024.105882; Pesticide Biochemistry and Physiology, 2024, vol. 201, núm.105882, p. 1-9; https://doi.org/10.1016/j.pestbp.2024.105882; https://repositori.udl.cat/handle/10459.1/465620

الاتاحة: https://doi.org/10.1016/j.pestbp.2024.105882
https://repositori.udl.cat/handle/10459.1/465620

المؤلفون: Linzhi Bai, Xiangju Li, Xiaotong Guo, Jingchao Chen, Haiyan Yu, Hailan Cui

المصدر: Plants, Vol 13, Iss 8, p 1139 (2024)

مصطلحات موضوعية: Bromus japonicus, ALS-inhibiting herbicides, resistant population screening, cross-resistance, target-site mutation, Botany, QK1-989

Relation: https://www.mdpi.com/2223-7747/13/8/1139; https://doaj.org/toc/2223-7747; https://doaj.org/article/dfdc0e78af334acfa07c0b4beee9941c

الاتاحة: https://doi.org/10.3390/plants13081139
https://doaj.org/article/dfdc0e78af334acfa07c0b4beee9941c

المؤلفون: Maria Asaad, Mona Mahfood, Abdullah Al Mutery, Abdelaziz Tlili

المصدر: Human Genomics, Vol 17, Iss 1, Pp 1-10 (2023)

مصطلحات موضوعية: Non-syndromic hearing loss, Frameshift mutation, Splice site mutation, MYO15A gene, OTOF gene, Clinical exome sequencing, Medicine, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1479-7364

URL الوصول: https://doaj.org/article/9844d87463d34aa580257b0829e3ac7c

المؤلفون: Margus, Aigi, Piiroinen, Saija, Lehmann, Philipp, Grapputo, Alessandro, Gilbert, Leona, Chen, Yolanda H., Lindström, Leena

المصدر: Ecology and Evolution. 11(22):15995-16005

مصطلحات موضوعية: carbamate, gene expression, insecticide resistance, organophosphate, target site mutation

وصف الملف: print

URL الوصول: https://urn.kb.se/resolve?urn=urn:nbn:se:su:diva-199564
https://doi.org/10.1002/ece3.8269

المؤلفون: Cesare Rossi, Sherin Ramadan, Cecilia Evangelisti, Simona Ferrari, Maria Accadia, Reha M. Toydemir, Emanuele Panza

مصطلحات موضوعية: Genetics, Genetic Engineering, Biomarkers, Developmental Genetics (incl. Sex Determination), Epigenetics (incl. Genome Methylation and Epigenomics), Gene Expression (incl. Microarray and other genome-wide approaches), Genome Structure and Regulation, Genomics, Genetically Modified Animals, Livestock Cloning, Gene and Molecular Therapy, CHD7, CHARGE syndrome, splice site mutation, minigene, intronic variant

Relation: https://figshare.com/articles/presentation/Presentation1_Case_report_Functional_characterization_of_a_novel_CHD7_intronic_variant_in_patients_with_CHARGE_syndrome_pdf/22058108

الاتاحة: https://doi.org/10.3389/fgene.2023.1082100.s005
https://figshare.com/articles/presentation/Presentation1_Case_report_Functional_characterization_of_a_novel_CHD7_intronic_variant_in_patients_with_CHARGE_syndrome_pdf/22058108

المؤلفون: Catarina I. Gonçalves, Josianne N. Carriço, Omneya M. Omar, Ebtesam Abdalla, Manuel C. Lemos

المصدر: Frontiers in Endocrinology, Vol 14 (2023)

مصطلحات موضوعية: HDR syndrome, hypoparathyroidism, deafness, renal dysplasia, GATA3, splice site mutation, Diseases of the endocrine glands. Clinical endocrinology, RC648-665

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fendo.2023.1207425/full; https://doaj.org/toc/1664-2392

URL الوصول: https://doaj.org/article/a7df735ee3134e86aeb39bef34d0f5f8

المؤلفون: Caroline Atef Tawfik, Nagham Maher Elbagoury, Noha Ibrahim Khater, Mona Lotfi Essawi

المصدر: BMC Ophthalmology, Vol 22, Iss 1, Pp 1-11 (2022)

مصطلحات موضوعية: Africa, Egypt, Novel canonical splice site mutation, Oguchi disease, and S-antigen (SAG) gene, Ophthalmology, RE1-994

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1471-2415

URL الوصول: https://doaj.org/article/bd4e86fecd8e402a9d4e6bfbaa2a37c3