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1
المؤلفون: Dan Sun, Yi Wang, Danmin Shen, Junling Wang, Yuqing Shi, Chaoping Hu, Jiuwei Li, Xiaotun Ren, Tongli Han, Guohong Chen, Tianyu Song, Zhimei Liu, Weihua Zhang, Changhong Ding, Fang Fang
المصدر: Mitochondrion. 62:139-150
مصطلحات موضوعية: Male, China, Mitochondrial DNA, Mitochondrial Diseases, Genotype, Biology, DNA, Mitochondrial, Cohort Studies, Asian People, Humans, Point Mutation, Genetic Predisposition to Disease, Allele, Child, Molecular Biology, Gene, Retrospective Studies, Genetics, Genetic heterogeneity, Cell Biology, Penetrance, Heteroplasmy, Mitochondria, Phenotype, Mutation, Mutation (genetic algorithm), Molecular Medicine, Female
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8f02d68a68c154e21a65b9523ef37b29Test
https://doi.org/10.1016/j.mito.2021.11.006Test -
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المؤلفون: Chaoping Hu, Xihua Li
المصدر: Gene therapy. 27(7-8)
مصطلحات موضوعية: 0301 basic medicine, China, Neuromuscular disease, Genetic enhancement, Duchenne muscular dystrophy, Disease, Biology, Bioinformatics, Muscular Atrophy, Spinal, 03 medical and health sciences, 0302 clinical medicine, Gene replacement, Genetics, medicine, Humans, Molecular Biology, Gene, Clinical Trials as Topic, Spinal muscular atrophy, Genetic Therapy, Neuromuscular Diseases, medicine.disease, Clinical trial, Muscular Dystrophy, Duchenne, 030104 developmental biology, 030220 oncology & carcinogenesis, Molecular Medicine
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aae075c816af9fc45e8b07410a2bc867Test
https://pubmed.ncbi.nlm.nih.gov/32591735Test -
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المؤلفون: Shuizhen Zhou, Yi Wang, Chaoping Hu, Yiyun Shi, Lei Zhao, Xihua Li, Bingbing Wu
المصدر: European Journal of Medical Genetics. 63:103898
مصطلحات موضوعية: Male, 0301 basic medicine, China, Mitochondrial DNA, Mitochondrial Diseases, Mitochondrial disease, NDUFV1, 030105 genetics & heredity, Biology, Gene mutation, medicine.disease_cause, Mitochondrial Proteins, 03 medical and health sciences, Mitochondrial myopathy, Exome Sequencing, Genetics, medicine, Humans, Genetic Testing, Child, Muscle, Skeletal, Genetics (clinical), Exome sequencing, Mutation, Infant, General Medicine, medicine.disease, 030104 developmental biology, Child, Preschool, Female, HADHB
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2945deda9f9414b03692b16c2f9cdda5Test
https://doi.org/10.1016/j.ejmg.2020.103898Test -
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المؤلفون: Yi Wang, Yiyun Shi, Fang Liu, Bingbing Wu, Hui Li, Wei Shi, Lei Zhao, Xihua Li, Shui-zhen Zhou, Chaoping Hu
المصدر: Orphanet Journal of Rare Diseases
مصطلحات موضوعية: Male, musculoskeletal diseases, China, congenital, hereditary, and neonatal diseases and abnormalities, Adolescent, Databases, Factual, Nonsense mutation, Population, computer.software_genre, Dystrophin, medicine, Humans, Outpatient clinic, Genetics(clinical), Pharmacology (medical), Registries, Muscular dystrophy, Child, education, Genetics (clinical), Medicine(all), education.field_of_study, Database, business.industry, Research, Infant, Duchenne and Becker muscular dystrophy, General Medicine, medicine.disease, Exon skipping, Muscular Dystrophy, Duchenne, Patient recruitment, Clinical trial, The CHFU database, Child, Preschool, Ambulatory, Patient management, business, computer
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0aa2153c1304295beaecf6e47e5dadceTest
https://doi.org/10.1186/s13023-014-0220-7Test