المؤلفون: Jing Zheng, Meiqun Gu, Shasha Xiao, Chongzhen Li, Hongying Mi, Xiaoyan Xu

المصدر: BMC Pediatrics, Vol 24, Iss 1, Pp 1-9 (2024)

مصطلحات موضوعية: Schinzel-Giedion syndrome, SETBP1, Neonate, Hydronephrosis, Pediatrics, RJ1-570

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/1471-2431Test

الوصول الحر: https://doaj.org/article/68cbc886efe54ca3a85a8ecda4225d16Test

المؤلفون: V. Alesi, S. Genovese, M. C. Roberti, E. Sallicandro, S. Di Tommaso, S. Loddo, V. Orlando, D. Pompili, C. Calacci, V. Mei, E. Pisaneschi, M. V. Faggiano, A. Morgia, C. Mammì, G. Astrea, R. Battini, M. Priolo, M. L. Dentici, R. Milone, A. Novelli

المصدر: Human Genomics, Vol 18, Iss 1, Pp 1-14 (2024)

مصطلحات موضوعية: SETBP1, Optical genome mapping, OGM, Complex rearrangement, Translocation, RASopathy, Medicine, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/1479-7364Test

الوصول الحر: https://doaj.org/article/33ca793b8bc147d7af8262f88a7ba81eTest

المؤلفون: Hongdan Wang, Yue Gao, Litao Qin, Mengting Zhang, Weili Shi, Zhanqi Feng, Liangjie Guo, Bofeng Zhu, Shixiu Liao

المصدر: Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-16 (2023)

مصطلحات موضوعية: SETBP1, SETBP1 haploinsufficiency disorder, Schinzel-Giedon syndrome, Tumorgenesis, Medicine

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/1750-1172Test

الوصول الحر: https://doaj.org/article/44bb6318c48b43d8aeed1f6a8257271eTest

المؤلفون: Le Wang, Xu-Dong Wang, Bo Yang, Xue-Meng Wang, Yu-Qian Peng, Hang-Jing Tan, Hong-Mei Xiao

المصدر: BMC Medical Genomics, Vol 16, Iss 1, Pp 1-5 (2023)

مصطلحات موضوعية: SETBP1, Intellectual disability, Autosomal dominant mental retardation 29, Whole-genome sequencing, Internal medicine, RC31-1245, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/1755-8794Test

الوصول الحر: https://doaj.org/article/24c58478f0ad4ab28f1a6a4a9f369b83Test

المؤلفون: Di Mambro, Antonella

المساهمون: Calle-Patino, Yolanda, Esposito, Maria, Wrench, Bela

مصطلحات موضوعية: MLL, Leukaemia, FTY720, Carfilzomib, SETBP1, SET, CIP2A, PP2A

الوصول الحر: https://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.860575Test

المؤلفون: Richter, Florian, Henssen, Clara, Steiert, Tim Alexander, Meissner, Tobias, Mehdorn, Anne-Sophie, Röcken, Christoph, Franke, Andre, Egberts, Jan-Hendrik, Becker, Thomas, Sebens, Susanne, Forster, Michael

مصطلحات موضوعية: article, ScholarlyArticle, Published Version, ddc:000, Humans, Esophageal Neoplasms, Homeodomain Proteins, DNA, Neoplasm, Mutation, Biomarkers, Tumor, Liquid Biopsy, Circulating Tumor DNA, Sequencing, ctDNA, EC, Ngs, Cfdna, Cell-free Dna, Setbp1

العلاقة: International journal of molecular sciences -- IJMS -- 1422-0067 -- 1661-6596; https://doi.org/10.3390/ijms241310673Test; https://nbn-resolving.org/urn:nbn:de:gbv:8:3-2024-00049-5Test; https://macau.uni-kiel.de/receive/macau_mods_00004330Test; https://macau.uni-kiel.de/servlets/MCRFileNodeServlet/macau_derivate_00005576/ijms-24-10673-v2.pdfTest

الإتاحة: https://doi.org/10.3390/ijms241310673Test
https://nbn-resolving.org/urn:nbn:de:gbv:8:3-2024-00049-5Test
https://macau.uni-kiel.de/receive/macau_mods_00004330Test
https://macau.uni-kiel.de/servlets/MCRFileNodeServlet/macau_derivate_00005576/ijms-24-10673-v2.pdfTest

المؤلفون: Florian Richter, Clara Henssen, Tim Alexander Steiert, Tobias Meissner, Anne-Sophie Mehdorn, Christoph Röcken, Andre Franke, Jan-Hendrik Egberts, Thomas Becker, Susanne Sebens, Michael Forster

المصدر: International Journal of Molecular Sciences; Volume 24; Issue 13; Pages: 10673

مصطلحات موضوعية: EC, cell-free DNA, cfDNA, circulating tumor DNA, ctDNA, NGS, SETBP1, sequencing

جغرافية الموضوع: agris

وصف الملف: application/pdf

العلاقة: Molecular Oncology; https://dx.doi.org/10.3390/ijms241310673Test

الإتاحة: https://doi.org/10.3390/ijms241310673Test

المؤلفون: Hansong Yang, Zhiyong Liu, Dongmei Chen, Weiru Lin, Lin Wang, Tianfeng Chen, Ruiquan Wang, Xialin Yan

المصدر: Frontiers in Pediatrics, Vol 10 (2022)

مصطلحات موضوعية: Schinzel-Giedion syndrome, SETBP1, neonate, phenotypes, neurodevelopmental delay, Pediatrics, RJ1-570

وصف الملف: electronic resource

العلاقة: https://www.frontiersin.org/articles/10.3389/fped.2022.920741/fullTest; https://doaj.org/toc/2296-2360Test

الوصول الحر: https://doaj.org/article/b8f9b91b2e534ff8827faaac95af3474Test

المؤلفون: Li Liu, Xiaoshu Feng, Sihan Liu, Yanqiu Zhou, Xiaojing Dong, Hong Yao, Bo Tan

المصدر: Frontiers in Neuroscience, Vol 16 (2022)

مصطلحات موضوعية: RNA-seq, de novo, missense variant, SETBP1, clinical diagnosis, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

وصف الملف: electronic resource

العلاقة: https://www.frontiersin.org/articles/10.3389/fnins.2022.980000/fullTest; https://doaj.org/toc/1662-453XTest

الوصول الحر: https://doaj.org/article/617bba9fd9c1492a889535c7a9ef9330Test

المؤلفون: Fujin Fang, Chengyou Liu, Qiong Li, Rui Xu, Tiantian Zhang, Xiaobing Shen

المصدر: Frontiers in Oncology, Vol 12 (2022)

مصطلحات موضوعية: gastric cancer, SETBP1, TCGA, GSEA, prognostic marker, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282

وصف الملف: electronic resource

العلاقة: https://www.frontiersin.org/articles/10.3389/fonc.2022.908943/fullTest; https://doaj.org/toc/2234-943XTest

الوصول الحر: https://doaj.org/article/acb19d585c9549778e72437fb51b7652Test