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1دورية أكاديمية
المؤلفون: LI Baiqing, ZHU Xintong, GUO Hong
المصدر: 陆军军医大学学报, Vol 45, Iss 8, Pp 842-846 (2023)
مصطلحات موضوعية: schmid type metaphyseal chondrodysplasia, col10a1, endoplasmic reticulum stress, type x collagen (α1), gene diagnosis, Medicine (General), R5-920
وصف الملف: electronic resource
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2دورية أكاديمية
المؤلفون: Lingchi Kong, Li Shi, Wenbo Wang, Rongtai Zuo, Mengwei Wang, Qinglin Kang
المصدر: BMC Medical Genetics, Vol 20, Iss 1, Pp 1-9 (2019)
مصطلحات موضوعية: Schmid-type metaphyseal chondrodysplasia (MCDS), COL10A1, Type X collagen (α1), Incomplete dominance, C-terminal noncollagenous domain (NC1), Internal medicine, RC31-1245, Genetics, QH426-470
وصف الملف: electronic resource
Relation: https://doaj.org/toc/1471-2350
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3دورية أكاديمية
المؤلفون: Huixiao Wu, Shuping Wang, Guimei Li, Yangyang Yao, Ning Wang, Xiaoqing Sun, Li Fang, Xiuyun Jiang, Jiajun Zhao, Yanzhou Wang, Chao Xu
المصدر: Molecular Genetics & Genomic Medicine, Vol 9, Iss 5, Pp n/a-n/a (2021)
مصطلحات موضوعية: COL10A1, schmid‐type metaphyseal chondrodysplasia, short stature, skeletal dysplasia, variant, Genetics, QH426-470
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2324-9269
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4دورية أكاديمية
المؤلفون: Kong, Lingchi, Shi, Li, Wang, Wenbo, Zuo, Rongtai, Wang, Mengwei, Kang, QinglinAff1
المصدر: BMC Medical Genetics. 20(1)
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5دورية أكاديمية
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6دورية أكاديمية
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7
المؤلفون: Xiaoqing Sun, Jiajun Zhao, Guimei Li, Li Fang, Chao Xu, Xiuyun Jiang, Yanzhou Wang, Shuping Wang, Huixiao Wu, Ning Wang, Yangyang Yao
المصدر: Molecular Genetics & Genomic Medicine, Vol 9, Iss 5, Pp n/a-n/a (2021)
Molecular Genetics & Genomic Medicineمصطلحات موضوعية: 0301 basic medicine, Proband, Male, Heterozygote, Metaphyseal chondrodysplasia, In silico, 030105 genetics & heredity, Biology, skeletal dysplasia, QH426-470, Osteochondrodysplasias, Short stature, Genetic analysis, COL10A1, 03 medical and health sciences, Collagen, type X, alpha 1, medicine, Genetics, Humans, Molecular Biology, Gene, Genetics (clinical), Original Articles, medicine.disease, schmid‐type metaphyseal chondrodysplasia, short stature, 030104 developmental biology, Phenotype, variant, Dysplasia, Child, Preschool, Mutation, Original Article, medicine.symptom, Protein Multimerization, Collagen Type X
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8
المؤلفون: Li Shi, Qinglin Kang, Mengwei Wang, Rongtai Zuo, Wenbo Wang, Lingchi Kong
المصدر: BMC Medical Genetics
BMC Medical Genetics, Vol 20, Iss 1, Pp 1-9 (2019)مصطلحات موضوعية: Adult, Male, Proband, lcsh:Internal medicine, China, Heterozygote, lcsh:QH426-470, Incomplete dominance, Biology, Osteochondrodysplasias, Short stature, COL10A1, symbols.namesake, Genetics, medicine, Humans, Missense mutation, Expressivity (genetics), lcsh:RC31-1245, Gene, Genetics (clinical), Aged, Schmid-type metaphyseal chondrodysplasia (MCDS), Aged, 80 and over, Sanger sequencing, C-terminal noncollagenous domain (NC1), Infant, Middle Aged, Phenotype, Pedigree, lcsh:Genetics, Type X collagen (α1), Mutation, Mutation testing, symbols, Female, medicine.symptom, Collagen Type X, Research Article
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9
المؤلفون: Li He, Hai Jiang, Wusheng Miao, Yongtao Wu, Bing Wang, Jining Qu, Ge Wu, Min Li
المصدر: International Journal of Molecular Medicine
مصطلحات موضوعية: 0301 basic medicine, differentially expressed genes, XBP1, Schmid-type metaphyseal chondrodysplasia, Gene regulatory network, Ribosome biogenesis, Biology, Osteochondrodysplasias, 03 medical and health sciences, Transcription (biology), Genetics, Humans, Gene Regulatory Networks, Protein Interaction Maps, Transcription factor, Gene, Microarray analysis techniques, Gene Expression Profiling, Articles, functional enrichment analysis, General Medicine, Gene expression profiling, 030104 developmental biology, protein-protein interaction network, Metabolic Networks and Pathways, Transcription Factors
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10دورية أكاديمية
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