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1دورية أكاديمية
المؤلفون: Lihua Cao, Yunji Leng, Xinmiao Nie, Shuyang Zhao, Tianxiao Zhang
المصدر: Genes and Diseases, Vol 10, Iss 3, Pp 660-663 (2023)
مصطلحات موضوعية: Medicine (General), R5-920, Genetics, QH426-470
وصف الملف: electronic resource
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2دورية أكاديمية
المؤلفون: Yu Xiao, Xiaodong Wang, Hong Weng, Zhao Ding, Kaiyu Qian, Wan Jin, Sen Lu, Lingao Ju, Zhiwen He, Gang Wang, Xiaoyu Xie, Dongmei Liu, Zhou Fan, Kai Wu, Sheng Li, Huanhuan Guo, Guofeng Qian, Wei Jiang, Yunji Leng, Junpeng Zhao, Xinyue Cao, Minsheng Peng, Congqing Jiang, Li Li, Yi Zhang, Xinghuan Wang
المصدر: Clinical and Translational Medicine, Vol 12, Iss 9, Pp n/a-n/a (2022)
مصطلحات موضوعية: Medicine (General), R5-920
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2001-1326
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3دورية أكاديمية
المؤلفون: Jingyan Li, Yunji Leng, Shirui Han, Lulu Yan, Chaoxia Lu, Yang Luo, Xue Zhang, Lihua Cao
المصدر: Orphanet Journal of Rare Diseases, Vol 13, Iss 1, Pp 1-12 (2018)
مصطلحات موضوعية: Pediatric cataract, Next-generation sequencing, Variant, Nystagmus, Medicine
وصف الملف: electronic resource
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4Short article: Sequence variations of PKHD1 underlie congenital hepatic fibrosis in a Chinese family
المؤلفون: Chunfeng Liu, Ni Yang, Yunji Leng, Chen Chen, Lihua Cao, Shundong Dai
المصدر: European Journal of Gastroenterology & Hepatology. 31:363-367
مصطلحات موضوعية: Liver Cirrhosis, Male, China, Heterozygote, Heredity, Biopsy, DNA Mutational Analysis, Mutation, Missense, Receptors, Cell Surface, Bioinformatics, Young Adult, Asian People, Exome Sequencing, medicine, Humans, Missense mutation, Genetic Predisposition to Disease, cardiovascular diseases, Child, Exome sequencing, Hepatology, medicine.diagnostic_test, business.industry, Genetic Diseases, Inborn, Gastroenterology, Computational Biology, Heterozygote advantage, medicine.disease, Pedigree, Developmental disorder, Phenotype, Liver, Portal hypertension, Congenital hepatic fibrosis, Female, Tomography, X-Ray Computed, business, Hepatic fibrosis
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::507b2763b378b6b2bb6de3e33cd913db
https://doi.org/10.1097/meg.0000000000001295 -
5
المؤلفون: Lulu Yan, Lihua Cao, Jinsong Zhang, Liwei Ma, Tianxiao Zhang, Yunji Leng, Chen Chen, Qian Wang
المصدر: Gene. 675
مصطلحات موضوعية: 0301 basic medicine, Male, Heterozygote, DNA Mutational Analysis, Mutation, Missense, Chromosomal translocation, Biology, Cataract, 03 medical and health sciences, 0302 clinical medicine, Asian People, Mutant protein, Genetics, medicine, Missense mutation, Humans, Family, Amino Acid Sequence, gamma-Crystallins, Exome sequencing, Genetic heterogeneity, General Medicine, medicine.disease, eye diseases, Pedigree, 030104 developmental biology, Cytoplasm, Mutation (genetic algorithm), 030221 ophthalmology & optometry, Congenital cataracts, Female
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6
المؤلفون: Lulu Yan, Lihua Cao, Xue Zhang, Chaoxia Lu, Yang Luo, Shirui Han, Yunji Leng, Jingyan Li
المصدر: Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases, Vol 13, Iss 1, Pp 1-12 (2018)مصطلحات موضوعية: 0301 basic medicine, Proband, Male, Pediatrics, medicine.medical_specialty, genetic structures, Genotype, DNA Mutational Analysis, Mutation, Missense, lcsh:Medicine, Disease, DNA sequencing, Cataract, 03 medical and health sciences, symbols.namesake, Nystagmus, 0302 clinical medicine, Asian People, Medicine, Humans, Pharmacology (medical), Variant, Genetics (clinical), Sanger sequencing, business.industry, Genetic heterogeneity, Research, lcsh:R, Infant, Newborn, High-Throughput Nucleotide Sequencing, Infant, General Medicine, Crystallins, Human genetics, eye diseases, Pedigree, Pediatric cataract, 030104 developmental biology, Cohort, Mutation, 030221 ophthalmology & optometry, symbols, Next-generation sequencing, Female, business
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7
المؤلفون: Chen Chen, Lulu Yan, Lihua Cao, Yunji Leng, Shusen Wang, Yang Luo, Hongquan Feng
المصدر: The Journal of dermatology. 45(7)
مصطلحات موضوعية: 0301 basic medicine, Male, DNA Mutational Analysis, Mevalonic Acid, Dermatology, Disease, Biology, medicine.disease_cause, 030207 dermatology & venereal diseases, 03 medical and health sciences, symbols.namesake, Exon, 0302 clinical medicine, Asian People, medicine, Humans, In patient, Gene, Sanger sequencing, Genetics, Mutation, Computational Biology, General Medicine, Exons, medicine.disease, Introns, Pedigree, Porokeratosis, 030104 developmental biology, symbols, Female, Mevalonate pathway, Signal Transduction
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8
المؤلفون: Yunji Leng, Lulu Yan, Yang Luo, Shusen Wang, Lihua Cao, Chen Chen, Xue Zhang
المصدر: Journal of genetics. 96(4)
مصطلحات موضوعية: 0301 basic medicine, Male, Models, Molecular, China, Foot Deformities, Congenital, Genotype, Protein Conformation, DNA Mutational Analysis, Mutation, Missense, Biology, 03 medical and health sciences, symbols.namesake, 0302 clinical medicine, Genetics, medicine, Missense mutation, Humans, Abnormalities, Multiple, Family, Hand-Foot-Genital Syndrome, Promoter Regions, Genetic, Gene, Genetic Association Studies, Sanger sequencing, Homeodomain Proteins, medicine.disease, Phenotype, Molecular biology, Pedigree, 030104 developmental biology, Urogenital Abnormalities, symbols, Homeobox, Female, Hand Deformities, Congenital, 030217 neurology & neurosurgery, HOXA13
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9دورية أكاديمية
المؤلفون: Ni Yang, Yunji Leng, Shundong Dai, Chen Chen, Chunfeng Liu, Lihua Cao, Yang, Ni, Leng, Yunji, Dai, Shundong, Chen, Chen, Liu, Chunfeng, Cao, Lihua
المصدر: European Journal of Gastroenterology & Hepatology; Mar2019, Vol. 31 Issue 3, p363-367, 5p