المؤلفون: Qitao Gou, Qiheng Gou, Xiaochuan Gan, Yuxin Xie

المصدر: Scientific Reports, Vol 14, Iss 1, Pp 1-21 (2024)

مصطلحات موضوعية: Non-small cell lung cancer, Target therapy, Oncologic driver, Rare mutations, Medicine, Science

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/2045-2322Test

الوصول الحر: https://doaj.org/article/04e381e7a49347ff895ad4522a2b0ef0Test

المؤلفون: Zhulin Wang, Chunyao Huang, Wenbo Fan, Shaowu Sun, Kaiyuan Li, Xu Liu, Jiangtao Pu, Guoqing Zhang, Xiangnan Li

المصدر: Frontiers in Oncology, Vol 14 (2024)

مصطلحات موضوعية: EGFR fusion, EGFR amplification, rare mutations, lung adenocarcinoma, targeted therapy, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282

وصف الملف: electronic resource

العلاقة: https://www.frontiersin.org/articles/10.3389/fonc.2024.1347282/fullTest; https://doaj.org/toc/2234-943XTest

الوصول الحر: https://doaj.org/article/0453b7f0a12e4710bb754f17bbcd6b55Test

المؤلفون: Yingying Jiang, Xiaoxu Fang, Yan Xiang, Tingwen Fang, Jingwen Liu, Kaihua Lu

المصدر: Current Oncology, Vol 30, Iss 6, Pp 5337-5349 (2023)

مصطلحات موضوعية: afatinib, epidermal growth factor receptor, uncommon mutations, rare mutations, non-small-cell lung cancer, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282

وصف الملف: electronic resource

العلاقة: https://www.mdpi.com/1718-7729/30/6/405Test; https://doaj.org/toc/1198-0052Test; https://doaj.org/toc/1718-7729Test

الوصول الحر: https://doaj.org/article/bbfaabbcf02e43f0bcc6c3ae5f304d10Test

المؤلفون: Yan Huang, Li Zhang

المصدر: Cancer Innovation, Vol 2, Iss 1, Pp 25-35 (2023)

مصطلحات موضوعية: ALK, driver gene‐positive lung cancer, EGFR, rare mutations, targeted therapy, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/2770-9183Test

الوصول الحر: https://doaj.org/article/059a2979701d4465a3ef6256e4ce4d46Test

المؤلفون: S. Ramalho, Sofia

المساهمون: Farinha, Carlos M., Amaral, Margarida D., Falcão, André O., Repositório da Universidade de Lisboa

مصطلحات موضوعية: Fibrose Quística, mutações raras, tráfego de proteínas, organoides intestinais, medicina personalizada, Cystic Fibrosis, rare mutations, protein trafficking, intestinal organoids, personalized medicine, Domínio/Área Científica::Ciências Naturais::Ciências Biológicas

وصف الملف: application/pdf

الإتاحة: http://hdl.handle.net/10451/57818Test

المؤلفون: Abbasali F.H., Mahmoud K.Sh., Hengameh N., Mina D.H., Setare D., Hale D.M, Sima D.M.

المصدر: Balkan Journal of Medical Genetics, Vol 25, Iss 2, Pp 51-62 (2022)

مصطلحات موضوعية: azeri turkish population, β-globin, rare mutations, iran, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/2199-5761Test

الوصول الحر: https://doaj.org/article/61ffc7bde48d43d08b2e13b141164251Test

المؤلفون: Sophia T. Pallenberg, Inka Held, Christian Dopfer, Rebecca Minso, Manuel M. Nietert, Gesine Hansen, Burkhard Tümmler, Anna-Maria Dittrich

المصدر: Frontiers in Pharmacology, Vol 14 (2023)

مصطلحات موضوعية: cystic fibrosis transmembrane conductance regulator (CFTR), elexacaftor/tezacaftor/ivacaftor, c.165-2A>G, CFTR rare mutations, exon 3, Therapeutics. Pharmacology, RM1-950

وصف الملف: electronic resource

العلاقة: https://www.frontiersin.org/articles/10.3389/fphar.2023.1153656/fullTest; https://doaj.org/toc/1663-9812Test

الوصول الحر: https://doaj.org/article/ab861ae3419c4534839b69562c2257bfTest

المؤلفون: Bonvicini, Cristian, Scassellati, Catia, Benussi, Luisa, Di Maria, Emilio, Maj, Carlo, Ciani, Miriam, Fostinelli, Silvia, Mega, Anna, Bocchetta, Martina, Lanzi, Gaetana, Giacopuzzi, Edoardo, Ferraboli, Sergio, Pievani, Michela, Fedi, Virginia, Defanti, Carlo Alberto, Giliani, Silvia, Alzheimer’s Disease Neuroimaging Initiative, Frisoni, Giovanni Battista, Ghidoni, Roberta, Gennarelli, Massimo

المصدر: Journal of Alzheimer's disease : JAD. 67(1)

مصطلحات موضوعية: Alzheimer’s Disease Neuroimaging Initiative, Humans, Dementia, Apolipoproteins E, Risk Assessment, Retrospective Studies, Age of Onset, Alleles, Aged, Middle Aged, Female, Male, Presenilin-2, Genetic Variation, Genetic Association Studies, High-Throughput Nucleotide Sequencing, Prion Proteins, C9orf72 Protein, Alzheimer’s disease, Lewy body dementia, common variants, early onset dementia, frontotemporal dementia, next generation sequencing, rare mutations, Alzheimer's disease, frontotemporal dementia, Clinical Sciences, Cognitive Sciences, Neurosciences, Neurology & Neurosurgery

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/0xf9d1xvTest

المؤلفون: Kleinfelder, Karina, Villella, Valeria Rachela, Hristodor, Anca Manuela, Laudanna, Carlo, Castaldo, Giuseppe, Amato, Felice, Melotti, Paola, Sorio, Claudio

المساهمون: Kleinfelder, Karina, Villella, Valeria Rachela, Hristodor, Anca Manuela, Laudanna, Carlo, Castaldo, Giuseppe, Amato, Felice, Melotti, Paola, Sorio, Claudio

مصطلحات موضوعية: CFTR modulators, CFTR variants, Ussing chamber, cystic fibrosis, nasal cells, personalized medicine, rare mutations, rectal organoids, theratyping

وصف الملف: ELETTRONICO

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/37373505; info:eu-repo/semantics/altIdentifier/wos/WOS:001014792000001; volume:24; issue:12; firstpage:10358; lastpage:10371; numberofpages:14; journal:INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES; https://hdl.handle.net/11562/1098966Test

الإتاحة: https://doi.org/10.3390/ijms241210358Test
https://hdl.handle.net/11562/1098966Test

المؤلفون: Maria Chiara Scaini, Luisa Piccin, Davide Bassani, Antonio Scapinello, Stefania Pellegrini, Cristina Poggiana, Cristina Catoni, Debora Tonello, Jacopo Pigozzo, Luigi Dall’Olmo, Antonio Rosato, Stefano Moro, Vanna Chiarion-Sileni, Chiara Menin

المصدر: International Journal of Molecular Sciences; Volume 24; Issue 15; Pages: 12285

مصطلحات موضوعية: ligand-based homology modeling, molecular docking calculation, BRAF rare mutations, advanced melanoma, targeted therapy, liquid biopsy

جغرافية الموضوع: agris

وصف الملف: application/pdf

العلاقة: Molecular Informatics; https://dx.doi.org/10.3390/ijms241512285Test

الإتاحة: https://doi.org/10.3390/ijms241512285Test