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1دورية أكاديمية
المؤلفون: Yu-mian Gan, Yan-ping Zhang, Dan-dan Ruan, Jian-bin Huang, Yao-bin Zhu, Xin-fu Lin, Xiao-ping Xiao, Qiong Cheng, Zhen-bo Geng, Li-sheng Liao, Fa-qiang Tang, Jie-wei Luo
المصدر: Cell Death and Disease, Vol 13, Iss 6, Pp 1-9 (2022)
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2041-4889
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2دورية أكاديمية
المؤلفون: Ruo-li Wang, Dan-dan Ruan, Ya-nan Hu, Yu-mian Gan, Xin-fu Lin, Zhu-ting Fang, Li-sheng Liao, Fa-qiang Tang, Wu-bing He, Jie-wei Luo
المصدر: Frontiers in Pediatrics, Vol 10 (2022)
مصطلحات موضوعية: Bruck syndrome, PLOD2 variant, collagen cross-linking, osteogenesis imperfecta, joint contracture, Pediatrics, RJ1-570
وصف الملف: electronic resource
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3دورية أكاديمية
المؤلفون: Hong-Hong Pan, Dan-Dan Ruan, Min Wu, Ting Chen, Tao Lu, Yu-Mian Gan, Chen Wang, Li-Sheng Liao, Xin-Fu Lin, Xin Chen, Yao-Bin Zhu, Zhu-Ting Fang, Qing-Hua Yu, Guo-Kai Yang, Lie-Fu Ye, Jie-Wei Luo
المصدر: Journal of Medical Genetics; Dec2023, Vol. 60 Issue 12, p1210-1214, 24p
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4
المؤلفون: Qing-Hua Yu, Jie-Wei Luo, Fa-Qiang Tang, Dan-Dan Ruan, Yao-Bin Zhu, Ning Lin, Yu-Mian Gan, Li-Sheng Liao, Xin Qian, Xiao Yang, Tao Lu
المصدر: World Journal of Clinical Cases
مصطلحات موضوعية: musculoskeletal diseases, PIEZO1 gene, business.industry, Thalassemia, Observational Study, General Medicine, medicine.disease, Secondary hemochromatosis, Bioinformatics, Gap-PCR, Phenotype, DNA sequencing, 03 medical and health sciences, 0302 clinical medicine, 030220 oncology & carcinogenesis, Next-generation sequencing, medicine, Hemochromatosis osteoarthropathy, 030211 gastroenterology & hepatology, Hemochromatosis, business, Genetic diagnosis
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ae04048c083448faa3415bbde25fdc93
https://doi.org/10.12998/wjcc.v8.i23.5962 -
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المؤلفون: Yu-mian Gan, Yan-ping Zhang, Dan-dan Ruan, Jian-bin Huang, Yao-bin Zhu, Xin-fu Lin, Xiao-ping Xiao, Qiong Cheng, Zhen-bo Geng, Li-sheng Liao, Fa-qiang Tang, Jie-wei Luo
المصدر: Cell deathdisease. 13(6)
مصطلحات موضوعية: Fibroblast Growth Factors, Cancer Research, Cellular and Molecular Neuroscience, HEK293 Cells, Immunology, Mutation, Humans, Cell Biology, Familial Hypophosphatemic Rickets, RNA, Messenger, PHEX Phosphate Regulating Neutral Endopeptidase
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6
المؤلفون: Zhu-Ting Fang, Jie-Wei Luo, Li-Sheng Liao, Fa-Qiang Tang, Yao-Bin Zhu, Xin-Fu Lin, Ya-Nan Hu, Dan-Dan Ruan, Yu-Mian Gan, Yan-Ping Zhang
المصدر: The journal of gene medicineREFERENCES. 24(2)
مصطلحات موضوعية: Proband, Male, Factor VII Deficiency, Mutation, Missense, Hereditary Factor VII Deficiency, Biology, Compound heterozygosity, Immunofluorescence, Frameshift mutation, symbols.namesake, Drug Discovery, Genetics, medicine, Missense mutation, Humans, Molecular Biology, Genetics (clinical), Coagulation Disorder, Hematuria, Sanger sequencing, medicine.diagnostic_test, Factor VII, Molecular biology, Mutation, symbols, Molecular Medicine, Female
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7
المؤلفون: Yan-Ping Zhang, Xin-Fu Lin, Dan-Dan Ruan, Ying Chen, Fa-Qiang Tang, Xiu-Fen Zheng, Wen Wei, Jie-Wei Luo, Yu-Mian Gan, Yun-Fei Li
المصدر: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology. 43(4)
مصطلحات موضوعية: Proband, Pathology, medicine.medical_specialty, Hemiplegia, Dermatology, Gene mutation, medicine.disease_cause, symbols.namesake, ATP1A3, medicine, Animals, Dystonia, Sanger sequencing, Mutation, business.industry, Alternating hemiplegia of childhood, General Medicine, medicine.disease, Psychiatry and Mental health, Phenotype, Dystonic Disorders, symbols, Cerebellar atrophy, Female, Neurology (clinical), Sodium-Potassium-Exchanging ATPase, business
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8
المؤلفون: Rong, Wu, Xing-Lin, Ruan, Dan-Dan, Ruan, Jian-Hui, Zhang, Han-Lu, Wang, Quan-Zuan, Zeng, Tao, Lu, Yu-Mian, Gan, Jie-Wei, Luo, Jia-Bin, Wu
المصدر: Am J Transl Res
مصطلحات موضوعية: Original Article
URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::80095b8c74d8501ceb9db4762d3ab08c
https://pubmed.ncbi.nlm.nih.gov/34650681