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1دورية أكاديمية
المؤلفون: Lele Kuang, Bin Liu, Di Xi, Yuping Gao
المصدر: Molecular Genetics & Genomic Medicine, Vol 10, Iss 10, Pp n/a-n/a (2022)
مصطلحات موضوعية: adolescents, ERCC6, heterozygous variant, premature ovarian insufficiency, Genetics, QH426-470
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2324-9269
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2
المؤلفون: Lele Kuang, Yuchao Jiang, Shuxia Chen, Ke Su, Rui Peng, Xueyan Yang, Hongyan Wang
المصدر: Genes & Diseases. 9:1174-1177
مصطلحات موضوعية: Cell Biology, Molecular Biology, Biochemistry, Genetics (clinical)
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3
المؤلفون: Lele, Kuang, Rui, Peng, Bin, Liu, Di, Xi, Qiurong, Chang, Yuping, Gao
المصدر: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics. 39(4)
مصطلحات موضوعية: China, Intellectual Disability, Humans, Dwarfism, Osteochondrodysplasias, Pedigree
URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::bb65d1c22a8353b41308bc7e5f45f3e8
https://pubmed.ncbi.nlm.nih.gov/35446968 -
4
المؤلفون: Lele Kuang, Jiashun Lv, Jianhong Ye, Hongyan Wang, Youli Tong, Xue-Yan Yang, Rui Peng, Shuxia Chen, Ke Su, Feng Zhang, Li Jin, Ting Zhang, Yufang Zheng
المصدر: Human Mutation. 41:1383-1393
مصطلحات موضوعية: Male, China, congenital, hereditary, and neonatal diseases and abnormalities, Mutation, Missense, Regulator, Exencephaly, Biology, 03 medical and health sciences, Autophagy, Genetics, medicine, Animals, Humans, Neural Tube Defects, Zebrafish, Genetics (clinical), Adaptor Proteins, Signal Transducing, 030304 developmental biology, 0303 health sciences, Gene knockdown, 030305 genetics & heredity, Neural tube, Infant, medicine.disease, Cell biology, Neuroepithelial cell, HEK293 Cells, Neurulation, medicine.anatomical_structure, Case-Control Studies, Child, Preschool, Gene Knockdown Techniques, Female, MAP1LC3A
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5
المؤلفون: Lele, Kuang, Yuchao, Jiang, Shuxia, Chen, Ke, Su, Rui, Peng, Xueyan, Yang, Hongyan, Wang
المصدر: Genesdiseases. 9(5)
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6
المؤلفون: Lele Kuang, Hongyan Wang, Xue-Yan Yang, Shuxia Chen, Ke Su, Ting Zhang, Jianhong Ye
المصدر: Child's Nervous System. 35:965-972
مصطلحات موضوعية: Male, 0301 basic medicine, congenital, hereditary, and neonatal diseases and abnormalities, 030105 genetics & heredity, Polymorphism, Single Nucleotide, TFAP2A, Encephalocele, 03 medical and health sciences, Asian People, medicine, Humans, Genetic Predisposition to Disease, Risk factor, Enhancer, Transcription factor, Genetics, Sex Characteristics, business.industry, Neural tube, General Medicine, medicine.disease, Introns, Minor allele frequency, 030104 developmental biology, medicine.anatomical_structure, Transcription Factor AP-2, Pediatrics, Perinatology and Child Health, Intronic SNP, Female, Neurology (clinical), business
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7
المؤلفون: Jianhong Ye, Youli Tong, Jiashun Lv, Rui Peng, Shuxia Chen, Lele Kuang, Ke Su, Yufang Zheng, Ting Zhang, Feng Zhang, Li Jin, Xueyan Yang, Hongyan Wang
المصدر: Human Mutation. 41
مصطلحات موضوعية: Genetics, Genetics (clinical)
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8
المؤلفون: Lele, Kuang, Bin, Liu, Rui, Peng, Di, Xi, Yuping, Gao
المصدر: Int J Clin Exp Pathol
مصطلحات موضوعية: Original Article
URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::7fca2ae928d831aebe8eab106b05be21
https://pubmed.ncbi.nlm.nih.gov/32922611 -
9
المؤلفون: Richard H. Finnell, Zhongzhong Chen, Hongyan Wang, Lele Kuang
المصدر: Human Genetics. 137:195-202
مصطلحات موضوعية: Male, 0301 basic medicine, China, congenital, hereditary, and neonatal diseases and abnormalities, DNA Mutational Analysis, 030105 genetics & heredity, Biology, medicine.disease_cause, Article, Cohort Studies, 03 medical and health sciences, symbols.namesake, Loss of Function Mutation, Genetics, medicine, Humans, Gene family, Neural Tube Defects, Spinal Dysraphism, Genetics (clinical), Loss function, Sanger sequencing, Anencephaly, Mutation, Neural tube defect, Microfilament Proteins, Neural tube, Membrane Proteins, medicine.disease, Human genetics, Minor allele frequency, 030104 developmental biology, medicine.anatomical_structure, Aborted Fetus, symbols, Female