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1
المؤلفون: Ruo-Qian Cheng, Yan-Qin Ying, Zheng-Qing Qiu, Jun-Fen Fu, Chun-Xiu Gong, Yan-Ling Yang, Wei Shi, Hui Li, Ming-Sheng Ma, Chang-Yan Wang, Min Liu, Jia-Jia Chen, Chang Su, Xiao-Ping Luo, Fei-Hong Luo, Wei Lu
المصدر: World Journal of Pediatrics. 19:438-449
مصطلحات موضوعية: Pediatrics, Perinatology and Child Health
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2
المؤلفون: Wei Wang, Si-Hao Gao, Min Wei, Lin-Qing Zhong, Wei Liu, Shan Jian, Juan Xiao, Cai-Hui Zhang, Jian-Guo Zhang, Xiao-Feng Zeng, Wei-Bo Xia, Zheng-Qing Qiu, Hong-Mei Song
المصدر: World journal of pediatrics : WJP.
مصطلحات موضوعية: Pediatrics, Perinatology and Child Health
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3
المؤلفون: Xin-ning Wang, Zheng-qing Qiu, Min Wei, Hui-ping Shi, Yan Meng, Weimin Zhang, Fengxia Yao
المصدر: Clinical Genetics. 81:443-452
مصطلحات موضوعية: Male, China, Adolescent, Mucopolysaccharidosis I, Nonsense mutation, Prenatal diagnosis, Biology, medicine.disease_cause, Iduronidase, Asian People, Gene Frequency, Pregnancy, Prenatal Diagnosis, Genotype, Genetics, medicine, Humans, Missense mutation, Allele, Child, Allele frequency, Alleles, Genetics (clinical), Mutation, Infant, Child, Preschool, Female
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4
المؤلفون: Wei, Wang, Min, Wei, Hong-Mei, Song, Zheng-Qing, Qiu, Le-Jia, Zhang, Zhuo, Li, Xiao-Yan, Tang
المصدر: Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics. 17(4)
مصطلحات موضوعية: Glucose Transporter Type 2, Mutation, Humans, Female, Fanconi Syndrome
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5
المؤلفون: Shuang, Liu, Min, Wei, Juan, Xiao, Chang-Yan, Wang, Zheng-Qing, Qiu
المصدر: Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics. 16(5)
مصطلحات موضوعية: Male, Child, Preschool, Mutation, Humans, Female, Familial Hypophosphatemic Rickets, Child, PHEX Phosphate Regulating Neutral Endopeptidase
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6
المؤلفون: Wei, Wang, Zheng-Qing, Qiu, Hong-Mei, Song
المصدر: Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics. 16(2)
مصطلحات موضوعية: Adult, Male, Alternative Splicing, Adolescent, Mutation, Humans, Female, Middle Aged, N-Acetylglucosaminyltransferases, Exostoses, Multiple Hereditary, Aged, Pedigree
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7
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
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8
المؤلفون: Jiang-wei, Zhang, Chen, Wang, Chang-yan, Wang, Zheng-qing, Qiu
المصدر: Zhonghua er ke za zhi = Chinese journal of pediatrics. 51(9)
مصطلحات موضوعية: Liver Cirrhosis, Male, Sequence Homology, Amino Acid, DNA Mutational Analysis, Receptors, Cell Surface, Exons, Kidney, Polymerase Chain Reaction, Liver, Child, Preschool, Mutation, Humans, Polycystic Kidney, Autosomal Recessive, Ultrasonography
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9
المؤلفون: Zheng-qing, Qiu
المصدر: Zhonghua er ke za zhi = Chinese journal of pediatrics. 51(6)
مصطلحات موضوعية: Adenosine Triphosphatases, Ceruloplasmin, Alanine Transaminase, Cornea, Diagnosis, Differential, Hepatolenticular Degeneration, Liver, Liver Function Tests, Copper-Transporting ATPases, Mutation, Humans, Genetic Testing, Child, Cation Transport Proteins, Copper
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10
المؤلفون: Han-bing, Zhang, Wei-min, Zhang, Jia-jing, Qiu, Yan, Meng, Zheng-qing, Qiu
المصدر: Zhonghua er ke za zhi = Chinese journal of pediatrics. 50(6)
مصطلحات موضوعية: Male, Muscle Weakness, Adolescent, Glycogen Storage Disease Type II, Biopsy, Infant, Clinical Enzyme Tests, Prognosis, Young Adult, Child, Preschool, Humans, Female, Glucan 1,4-alpha-Glucosidase, Cardiomyopathies, Child, Respiratory Insufficiency, Creatine Kinase, Follow-Up Studies, Retrospective Studies
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11
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
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12
المؤلفون: Zheng-qing, Qiu, Chao-xia, Lu, Wei, Wang, Jia-jing, Qiu, Min, Wei
المصدر: Zhonghua er ke za zhi = Chinese journal of pediatrics. 49(3)
مصطلحات موضوعية: Adult, Male, Adolescent, Genotype, Monosaccharide Transport Proteins, DNA Mutational Analysis, Infant, Glycogen Storage Disease Type I, Antiporters, Pedigree, Young Adult, Child, Preschool, Mutation, Humans, Female, Child
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13
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
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14
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
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15
المؤلفون: Yuan-yuan, Peng, Yan, Meng, Zheng-qing, Qiu, Ou, Wang, Shang-zhi, Huang
المصدر: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics. 26(4)
مصطلحات موضوعية: Male, Williams Syndrome, Young Adult, Ligase Chain Reaction, Humans, Child, Oligonucleotide Probes, Sequence Deletion
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16
المؤلفون: Wei, Wang, Min, We, Hong-mei, Song, Zheng-qing, Qiu, Wei-min, Zhang, Xiao-yan, Wu, Chao-xia, Lu, Jun-ming, Qi, Hong, Jing, Fan, Li
المصدر: Zhonghua er ke za zhi = Chinese journal of pediatrics. 47(8)
مصطلحات موضوعية: Adult, Male, China, Adolescent, Biopsy, Muscles, Glycogen Debranching Enzyme System, Middle Aged, Glycogen Storage Disease Type III, Young Adult, Case-Control Studies, Child, Preschool, Humans, Female, Child, Glycogen, Aged
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17
المؤلفون: Ji, Li, Zheng-Qing, Qiu, Min, Wei
المصدر: Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics. 11(1)
مصطلحات موضوعية: Diagnosis, Differential, Humans, Caroli Disease
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18
المؤلفون: Wei-min, Zhang, Hui-ping, Shi, Yan, Meng, Bei-te, Li, Zheng-qing, Qiu, Jun-tao, Liu
المصدر: Zhonghua er ke za zhi = Chinese journal of pediatrics. 46(6)
مصطلحات موضوعية: Diagnosis, Differential, Male, Mucopolysaccharidosis III, Pregnancy, Child, Preschool, Prenatal Diagnosis, Acetylglucosaminidase, DNA Mutational Analysis, Mutation, Humans, Female, Sulfatases, Child
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19
المؤلفون: Zheng-qing, Qiu
المصدر: Zhonghua er ke za zhi = Chinese journal of pediatrics. 46(2)
مصطلحات موضوعية: Lysosomal Storage Diseases, Humans, Congresses as Topic
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20
المؤلفون: Wei, Wang, Xiao-Yan, Wu, Hong-Mei, Song, Zheng-Qing, Qiu, Min, Wei
المصدر: Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics. 10(4)
مصطلحات موضوعية: Male, Adolescent, Child, Preschool, Humans, Infant, Female, DNA Methylation, Child, Polymerase Chain Reaction, Prader-Willi Syndrome