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1دورية أكاديمية
المؤلفون: Hakim Si Ahmed, Ouardia Belarbi, Smail Daoudi, Pierre Labauge, Clarisse Carra-Dalliere, Schmitt Perrine, Sanchez Pauline, Séverine Drunate, Hélène Cavé
المصدر: Romanian Journal of Neurology, Vol 21, Iss 2, Pp 115-118 (2022)
مصطلحات موضوعية: polr3a-related leukodystrophy, ataxo-spasmodic hypomyelinating leukodystrophy, genetics, new mutation variant c.3892-5c > t, Medicine, Neurology. Diseases of the nervous system, RC346-429
وصف الملف: electronic resource
العلاقة: https://rjn.com.ro/articles/2022.2/RJN_2022_2_Art-04.pdfTest; https://doaj.org/toc/1843-8148Test; https://doaj.org/toc/2069-6094Test
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2دورية أكاديمية
المؤلفون: Rezvan Abtahi, Parvaneh Karimzadeh, Omid Aryani, Diba Akbarzadeh, Shadab Salehpour, Alireza Rezayi, Seyed Hassan Tonekaboni, Reza Zolfaghari Emameh, Massoud Houshmand
المصدر: Hereditas, Vol 159, Iss 1, Pp 1-11 (2022)
مصطلحات موضوعية: Niemann-Pick C, Molecular Study, New Mutation, Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/1601-5223Test
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3دورية أكاديمية
المؤلفون: Chunli Chen, Sitong Guo, Rui Zhao, Shoubin Liu, Jingjing Wu, Yuanyuan Xiao, Simeng Hou, Libin Jiang
المصدر: Frontiers in Genetics, Vol 13 (2022)
مصطلحات موضوعية: FEVR, new mutation of LRP5, OPA1, fraternal twin, case report, Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: https://www.frontiersin.org/articles/10.3389/fgene.2022.998846/fullTest; https://doaj.org/toc/1664-8021Test
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4دورية أكاديمية
المؤلفون: Ning Jia (520422), Lianpeng Chang (433830), Xin Gao (14001), Xiaohua Shi (697596), Xuelin Dou (10938549), Mei Guan (552025), Yajuan Shao (11174160), Ningning Li (566420), Yuejuan Cheng (5506805), Hongyan Ying (11174163), Zhao Sun (283073), Yanping Zhou (1612300), Lin Zhao (92451), Jianfeng Zhou (53330), Chunmei Bai (6339917)
مصطلحات موضوعية: Biophysics, Biochemistry, Medicine, Cell Biology, Genetics, Molecular Biology, Cancer, Chemical Sciences not elsewhere classified, New mutation, Circulating tumour DNA, Next generation sequencing, Biomarker, Metastatic colorectal cancer
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5دورية أكاديمية
المؤلفون: Ning Jia (520422), Lianpeng Chang (433830), Xin Gao (14001), Xiaohua Shi (697596), Xuelin Dou (10938549), Mei Guan (552025), Yajuan Shao (11174160), Ningning Li (566420), Yuejuan Cheng (5506805), Hongyan Ying (11174163), Zhao Sun (283073), Yanping Zhou (1612300), Lin Zhao (92451), Jianfeng Zhou (53330), Chunmei Bai (6339917)
مصطلحات موضوعية: Biophysics, Biochemistry, Medicine, Cell Biology, Genetics, Molecular Biology, Cancer, Chemical Sciences not elsewhere classified, New mutation, Circulating tumour DNA, Next generation sequencing, Biomarker, Metastatic colorectal cancer
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6دورية أكاديمية
المؤلفون: Ning Jia (520422), Lianpeng Chang (433830), Xin Gao (14001), Xiaohua Shi (697596), Xuelin Dou (10938549), Mei Guan (552025), Yajuan Shao (11174160), Ningning Li (566420), Yuejuan Cheng (5506805), Hongyan Ying (11174163), Zhao Sun (283073), Yanping Zhou (1612300), Lin Zhao (92451), Jianfeng Zhou (53330), Chunmei Bai (6339917)
مصطلحات موضوعية: Biophysics, Biochemistry, Medicine, Cell Biology, Genetics, Molecular Biology, Cancer, Chemical Sciences not elsewhere classified, New mutation, Circulating tumour DNA, Next generation sequencing, Biomarker, Metastatic colorectal cancer
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7دورية أكاديمية
المؤلفون: Ning Jia (520422), Lianpeng Chang (433830), Xin Gao (14001), Xiaohua Shi (697596), Xuelin Dou (10938549), Mei Guan (552025), Yajuan Shao (11174160), Ningning Li (566420), Yuejuan Cheng (5506805), Hongyan Ying (11174163), Zhao Sun (283073), Yanping Zhou (1612300), Lin Zhao (92451), Jianfeng Zhou (53330), Chunmei Bai (6339917)
مصطلحات موضوعية: Biophysics, Biochemistry, Medicine, Cell Biology, Genetics, Molecular Biology, Cancer, Chemical Sciences not elsewhere classified, New mutation, Circulating tumour DNA, Next generation sequencing, Biomarker, Metastatic colorectal cancer
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8
المؤلفون: Mostafa Almasi-Dooghaee, Omid Aryani, Fatemeh Sadat Mirfazeli, Amin Jahanbakhshi, Fatemeh Mohebi
المصدر: Basic and Clinical Neuroscience Journal. 13:893-900
مصطلحات موضوعية: Genetics, Cellular and Molecular Neuroscience, Wolfram syndrome, business.industry, New mutation, medicine, Jump, Neurology (clinical), medicine.disease, business, Gene
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::e56afd723fa17b7af04fa871ef9eceddTest
https://doi.org/10.32598/bcn.2021.910.3Test -
9دورية أكاديمية
المؤلفون: Hassan Chami, Samer Abou Arbid, Rebecca Badra, Chantal Farra
المصدر: Annals of Thoracic Medicine, Vol 12, Iss 4, Pp 290-293 (2017)
مصطلحات موضوعية: Atypical cystic fibrosis, conductance transmembrane regulatory gene, genetics, new mutation, normal chloride sweat test, Diseases of the circulatory (Cardiovascular) system, RC666-701, Diseases of the respiratory system, RC705-779
وصف الملف: electronic resource
العلاقة: http://www.thoracicmedicine.org/article.asp?issn=1817-1737;year=2017;volume=12;issue=4;spage=290;epage=293;aulast=ChamiTest; https://doaj.org/toc/1817-1737Test; https://doaj.org/toc/1998-3557Test
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10
المؤلفون: Dawei Jiang, Hongli Du, Shuhua Li, Meiling Hu, Jerome R Lon, Wei Liu, Binbin Xi, Yuting Huang, Yuhuan Meng, Yimo Qu, Shudai Lin, Lizhen Huang, Yunmeng Bai
المصدر: Computational and Structural Biotechnology Journal, Vol 19, Iss, Pp 1976-1985 (2021)
Computational and Structural Biotechnology Journalمصطلحات موضوعية: Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), Biophysics, Computational biology, Biology, Biochemistry, Genome, Article, 03 medical and health sciences, 0302 clinical medicine, Structural Biology, Epidemic trends, Genetics, Key mutations, 030304 developmental biology, ComputingMethodologies_COMPUTERGRAPHICS, 0303 health sciences, SARS-CoV-2, Haplotype, Automated tool, Pathogenicity, Computer Science Applications, Candidate key, 030220 oncology & carcinogenesis, New mutation, Mutation (genetic algorithm), Key (cryptography), TP248.13-248.65, Biotechnology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c22ad809cb934c122dd1cb5313719ea2Test
http://www.sciencedirect.com/science/article/pii/S2001037021001082Test