المؤلفون: Yuan-Ren Tong, Chang Geng, Yu-Zhou Guan, Yan-Huan Zhao, Hai-Tao Ren, Feng-Xia Yao, Chao Ling, Dan-Chen Wang, Lin Chen, Li-Ying Cui, Shu-Yang Zhang, Yi Dai

المصدر: Frontiers in Neurology, Vol 11 (2020)

مصطلحات موضوعية: NRDRS, Duchenne muscular dystrophy, Becker muscular dystrophy, hospital-registry, mutation spectrum, rare mutations, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/article/10.3389/fneur.2020.572006/full; https://doaj.org/toc/1664-2295

URL الوصول: https://doaj.org/article/b39a3e834c0b4f7e9ef083687870c441

المؤلفون: Yuan-Ren Tong, Chang Geng, Yu-Zhou Guan, Yan-Huan Zhao, Hai-Tao Ren, Feng-Xia Yao, Chao Ling, Dan-Chen Wang, Lin Chen, Li-Ying Cui, Shu-Yang Zhang, Yi Dai

مصطلحات موضوعية: Neurology and Neuromuscular Diseases, Neurogenetics, NRDRS, Duchenne muscular dystrophy, Becker muscular dystrophy, hospital-registry, mutation spectrum, rare mutations

Relation: https://figshare.com/articles/dataset/Table_1_A_Comprehensive_Analysis_of_2013_Dystrophinopathies_in_China_A_Report_From_National_Rare_Disease_Center_DOCX/13024838

الاتاحة: https://doi.org/10.3389/fneur.2020.572006.s003
https://figshare.com/articles/dataset/Table_1_A_Comprehensive_Analysis_of_2013_Dystrophinopathies_in_China_A_Report_From_National_Rare_Disease_Center_DOCX/13024838

المؤلفون: Yuan-Ren Tong, Chang Geng, Yu-Zhou Guan, Yan-Huan Zhao, Hai-Tao Ren, Feng-Xia Yao, Chao Ling, Dan-Chen Wang, Lin Chen, Li-Ying Cui, Shu-Yang Zhang, Yi Dai

مصطلحات موضوعية: Neurology and Neuromuscular Diseases, Neurogenetics, NRDRS, Duchenne muscular dystrophy, Becker muscular dystrophy, hospital-registry, mutation spectrum, rare mutations

Relation: https://figshare.com/articles/figure/Image_2_A_Comprehensive_Analysis_of_2013_Dystrophinopathies_in_China_A_Report_From_National_Rare_Disease_Center_TIF/13024835

الاتاحة: https://doi.org/10.3389/fneur.2020.572006.s002
https://figshare.com/articles/figure/Image_2_A_Comprehensive_Analysis_of_2013_Dystrophinopathies_in_China_A_Report_From_National_Rare_Disease_Center_TIF/13024835

المؤلفون: Jian-Cheng Wang, Yan-An Guan, Dong-Jian Wang, Han Zhang, Guo-An Song, Ru-Yu Li, Jin-Fang Xu, Feng-Xia Yao

المصدر: ACTA AGRONOMICA SINICA. 37:224-234

مصطلحات موضوعية: Genetic diversity, Agronomy, business.industry, Plant Science, Biology, business, Sorghum, biology.organism_classification, Agronomy and Crop Science, Biotechnology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::6f36c47633a3aa73e72e091f26e8feab
https://doi.org/10.3724/sp.j.1006.2011.00224

المؤلفون: Yan-An Guan, Xincheng Zhou, Jian-Cheng Wang, Chunqing Zhang, Guo-An Song, Feng-Xia Yao, Han Zhang, Ruyu Li

المصدر: Genetic Resources and Crop Evolution. 57:1-15

مصطلحات موضوعية: Genetics, Genetic diversity, biology, Haplotype, food and beverages, Plant Science, Sorghum, biology.organism_classification, Genome, Chloroplast DNA, Microsatellite, Allele, Agronomy and Crop Science, Sweet sorghum, Ecology, Evolution, Behavior and Systematics

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::d8fc6b273d38fab39813a6acecff7a0f
https://doi.org/10.1007/s10722-009-9446-y

المؤلفون: Yan, Meng, Wei-min, Zhang, Hui-ping, Shi, Feng-xia, Yao, Zheng-qing, Qiu, Tao, Yang, Shi-min, Zhao, Shang-zhi, Huang

المصدر: Zhonghua er ke za zhi = Chinese journal of pediatrics. 51(11)

مصطلحات موضوعية: Male, Multiple Sulfatase Deficiency Disease, DNA Mutational Analysis, Polymerase Chain Reaction, Child, Preschool, Intellectual Disability, Mutation, Leukocytes, Humans, Abnormalities, Multiple, Female, Oxidoreductases Acting on Sulfur Group Donors, Sulfatases, Child

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::098850b942f812a644d4b5d9ba774b80
https://pubmed.ncbi.nlm.nih.gov/24484558

المؤلفون: Han-bi, Wang, Qin-jie, Tian, Ai-jun, Sun, Feng-xia, Yao, Xiao-di, Kang, Ying, Zhang, Rong, Chen

المصدر: Zhonghua fu chan ke za zhi. 47(7)

مصطلحات موضوعية: Adult, Adolescent, Adrenal Hyperplasia, Congenital, Estradiol, 17-alpha-Hydroxyprogesterone, Steroid 17-alpha-Hydroxylase, Diagnosis, Differential, Young Adult, Adrenocorticotropic Hormone, Humans, Female, Testosterone, Follicle Stimulating Hormone, Retrospective Studies

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::5378662e42f257b26f2ef7b65ad457ef
https://pubmed.ncbi.nlm.nih.gov/23141163

المؤلفون: Xin-Ning, Wang, Min, Wei, Hui-Ping, Shi, Zheng-Qing, Qiu, Feng-Xia, Yao, Yan, Meng, Wei-Min, Zhang

المصدر: Zhonghua er ke za zhi = Chinese journal of pediatrics. 49(4)

مصطلحات موضوعية: Male, Heterozygote, Genotype, Mucopolysaccharidosis I, DNA Mutational Analysis, Homozygote, Iduronidase, Phenotype, Pregnancy, Child, Preschool, Prenatal Diagnosis, Mutation, Humans, Female

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::cb3b1f7d9ab611bed9a6e6549e210770
https://pubmed.ncbi.nlm.nih.gov/21624210

المؤلفون: Xin-ning, WANG, Hui-ping, SHI, Wei-min, ZHANG, Zheng-qing, QIU, Yan, MENG, Feng-xia, YAO, Min, WEI

المصدر: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics. 28(2)

مصطلحات موضوعية: Adult, Male, China, Adolescent, Base Sequence, Mucopolysaccharidosis I, DNA Mutational Analysis, Molecular Sequence Data, Sequence Analysis, DNA, Polymerase Chain Reaction, Polymorphism, Single Nucleotide, Iduronidase, Young Adult, Child, Preschool, Mutation, Humans, Female, Child

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::30a81c410fc5f9b75b99364e1f568a18
https://pubmed.ncbi.nlm.nih.gov/21462124

المؤلفون: Ai-qun, Xu, Xu-ming, Bian, Jun-tao, Liu, Feng-xia, Yao, Wei-min, Zhang, Na, Hao, Jing, Zhou

المصدر: Zhonghua fu chan ke za zhi. 45(7)

مصطلحات موضوعية: Adult, Chromosome Aberrations, Genetic Markers, DNA, Aneuploidy, Polymerase Chain Reaction, Fluorescence, Pregnancy, Tandem Repeat Sequences, Karyotyping, Prenatal Diagnosis, Chromosomes, Human, Humans, Female, Retrospective Studies

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::37e68114c62d2ef8742366ab9fdccc05
https://pubmed.ncbi.nlm.nih.gov/21029597

المؤلفون: Wei-min, Zhang, N L, Tang, Yan, Meng, Feng-xia, Yao, Zheng-qing, Qiu, Yan-long, Duan, Shang-zhi, Huang, Hui-ping, Shi

المصدر: Zhonghua yi xue za zhi. 89(48)

مصطلحات موضوعية: China, Gaucher Disease, Asian People, DNA Mutational Analysis, Mutation, Glucosylceramidase, Humans, Alleles

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::0245540fef197a00ca107f7c710b2daa
https://pubmed.ncbi.nlm.nih.gov/20223112

المؤلفون: Feng-xia, Yao, Hui, Guo, Juan-juan, Han, Yan, Meng, Nian-hu, Sun, Shang-zhi, Huang

المصدر: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics. 24(4)

مصطلحات موضوعية: Male, Genetic Linkage, Phenylalanine Hydroxylase, Polymerase Chain Reaction, Linkage Disequilibrium, Gene Frequency, Pregnancy, Phenylketonurias, Prenatal Diagnosis, Mutation, Humans, Female, Alleles, Microsatellite Repeats

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::bedcb7b6ccdffa67fb37b9d669f1d27a
https://pubmed.ncbi.nlm.nih.gov/17680525