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1دورية أكاديمية
المؤلفون: Hong-Dan Wang, Liang-Jie Guo, Zhan-Qi Feng, Da-Wei Zhang, Meng-Ting Zhang, Yue Gao, Chuan-Liang Chen, Bo-Feng Zhu
المصدر: Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-13 (2020)
مصطلحات موضوعية: Desbuquois dysplasia, CANT1, Novel mutation, Medicine
وصف الملف: electronic resource
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2دورية أكاديمية
المؤلفون: Hong-Yan Liu, Ji-Fang Xiao, Jia Huang, Yue Wang, Dong Wu, Tao Li, Hong-Dan Wang, Liang-Jie Guo, Qian-Nan Guo, Hai Xiao, Xue Lyu, Zheng-Hong Yu
المصدر: Chinese Medical Journal, Vol 130, Iss 1, Pp 104-107 (2017)
مصطلحات موضوعية: Avascular Necrosis of the Femoral Head, Cartilage Oligomeric Matrix Protein, Collagen Type II Alpha 1, Differential Diagnosis, Whole-exome Sequencing, Medicine
وصف الملف: electronic resource
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3دورية أكاديمية
المؤلفون: Hong-Yan Liu, Jia Huang, Dong Wu, Tao Li, Liang-Jie Guo, Qian-Nan Guo, Hong-Dan Wang, Rui-Li Wang, Yue Wang
المصدر: Chinese Medical Journal, Vol 129, Iss 1, Pp 88-91 (2016)
مصطلحات موضوعية: Collagen Type I Alpha 1, Gene Mutation, Molecular Diagnosis, Osteogenesis Imperfecta, Medicine
وصف الملف: electronic resource
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المؤلفون: Hong Dan Wang, Dong Wu, Rui Li Wang, Jia Huang, Tao Li, Dao Quan Dong, Qian Nan Guo, Yue Wang, Liang Jie Guo, Hongyan Liu
المصدر: Journal of the Chinese Medical Association, Vol 79, Iss 11, Pp 633-638 (2016)
مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Adolescent, Familial Exudative Vitreoretinopathies, Mutation, Missense, Nerve Tissue Proteins, law.invention, 03 medical and health sciences, Exon, 0302 clinical medicine, Retinal Diseases, law, Humans, Medicine, Missense mutation, Eye Proteins, Gene, Polymerase chain reaction, Aged, Medicine(all), X-linked, Genetics, lcsh:R5-920, Chinese, business.industry, Norrie disease pseudoglioma, familial exudative vitreoretinopathy, Eye Diseases, Hereditary, Genetic Diseases, X-Linked, General Medicine, Middle Aged, medicine.disease, genomic DNA, 030104 developmental biology, Child, Preschool, Mutation (genetic algorithm), 030221 ophthalmology & optometry, Familial exudative vitreoretinopathy, Female, Norrie disease, mutation, lcsh:Medicine (General), business
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المؤلفون: Hong Dan Wang, Fei Fei Huang, Liang Jie Guo, Tao Wang, Tao Li, Ying Tai Wang, Rui Li Wang, Dong Wu, Jia Huang, Qian Nan Guo, Yue Wang, Hongyan Liu
المصدر: Molecular Cytogenetics
مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Monosomy, Pediatrics, Intellectual disability, Chromosomal translocation, 030105 genetics & heredity, Biology, Biochemistry, 03 medical and health sciences, 0302 clinical medicine, Genotype-phenotype distinction, Gene duplication, Genetics, medicine, Delayed growth, Genetics(clinical), Molecular Biology, Genetics (clinical), Biochemistry, medical, Language barrier, Chinese, Cerebellar ataxia, Research, Biochemistry (medical), Cytogenetics, Karyotype, medicine.disease, Molecular Medicine, Imbalanced translocation, medicine.symptom, 030217 neurology & neurosurgery
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7دورية أكاديمية
المؤلفون: Hong-Dan Wang, Qiao-Fang Hou, Qian-Nan Guo, Tao Li, Dong Wu, Xian-Ping Zhang, Yan Chu, Miao He, Hai Xiao, Liang-Jie Guo, Ke Yang, Shi-Xiu Liao, Bo-Feng Zhu
المصدر: BMC Medical Genomics; 2014, Vol. 7 Issue 1, p1-14, 14p
مصطلحات موضوعية: DNA methylation, HUMAN genome, EMBRYOLOGY, FETAL development, X chromosome, GENE expression