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1دورية أكاديمية
المؤلفون: Xiaomei Zhu, Hui Li, Chaoping Hu, Min Wu, Shuizhen Zhou, Yi Wang, Wenhui Li
المصدر: BMC Neurology, Vol 23, Iss 1, Pp 1-5 (2023)
مصطلحات موضوعية: Spinal muscular atrophy (SMA), Hypoplasia of the corpus callosum, Dysmorphism, Nusinersen, Neurology. Diseases of the nervous system, RC346-429
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/1471-2377Test
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2دورية أكاديمية
المؤلفون: Chaoping Hu, Xihua Li, Yiyun Shi, Xiaomei Zhu, Lei Zhao, Wenhui Li, Shuizhen Zhou, Yi Wang
المصدر: Frontiers in Neurology, Vol 13 (2022)
مصطلحات موضوعية: spinal muscular atrophy, survival motor neuron, survival analysis, pattern, motor deterioration, Neurology. Diseases of the nervous system, RC346-429
وصف الملف: electronic resource
العلاقة: https://www.frontiersin.org/articles/10.3389/fneur.2022.1038012/fullTest; https://doaj.org/toc/1664-2295Test
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3دورية أكاديمية
المؤلفون: Chaoping Hu, Yiyun Shi, Lei Zhao, Shuizhen Zhou, Xihua Li
المصدر: Frontiers in Pediatrics, Vol 9 (2021)
مصطلحات موضوعية: myotonia congenita, CLCN1 gene, mutations, genotype, phenotype, Pediatrics, RJ1-570
وصف الملف: electronic resource
العلاقة: https://www.frontiersin.org/articles/10.3389/fped.2021.759505/fullTest; https://doaj.org/toc/2296-2360Test
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4دورية أكاديمية
المؤلفون: Chaoping Hu, Qiong Xu, Jin Shen, Yi Wang
المصدر: Frontiers in Neurology, Vol 12 (2021)
مصطلحات موضوعية: FOXRED1, mitochondrial encephalopathy, complex I defect, neuroimage, cystic encephalomalacia, Neurology. Diseases of the nervous system, RC346-429
وصف الملف: electronic resource
العلاقة: https://www.frontiersin.org/articles/10.3389/fneur.2021.633397/fullTest; https://doaj.org/toc/1664-2295Test
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5دورية أكاديمية
المؤلفون: Chaoping Hu, Xihua Li, Lei Zhao, Yiyun Shi, Shuizhen Zhou, Yi Wang
المصدر: Frontiers in Neurology, Vol 11 (2020)
مصطلحات موضوعية: mitochondrial myopathy, gene mutation, treatment, cytochrome-c oxidase, pathology, Neurology. Diseases of the nervous system, RC346-429
وصف الملف: electronic resource
العلاقة: https://www.frontiersin.org/article/10.3389/fneur.2020.01000/fullTest; https://doaj.org/toc/1664-2295Test
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6
المؤلفون: Shuizhen Zhou, Lei Zhao, Yiyun Shi, Chaoping Hu, Xihua Li
المصدر: Frontiers in Pediatrics, Vol 9 (2021)
Frontiers in Pediatricsمصطلحات موضوعية: medicine.medical_specialty, phenotype, genotype, medicine.disease_cause, Pediatrics, Gastroenterology, RJ1-570, Exon, Internal medicine, Genotype, medicine, Missense mutation, Original Research, CLCN1, Mutation, biology, Myotonia congenita, business.industry, CLCN1 gene, mutations, medicine.disease, Myotonia, Muscle relaxation, Pediatrics, Perinatology and Child Health, biology.protein, business, myotonia congenita
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::50233ecf9a7710d315dc5702eab02f43Test
https://doi.org/10.3389/fped.2021.759505Test -
7
المؤلفون: Yi Wang, Qiong Xu, Chaoping Hu, Jin Shen
المصدر: Frontiers in Neurology, Vol 12 (2021)
Frontiers in Neurologyمصطلحات موضوعية: Cerebral atrophy, medicine.medical_specialty, business.industry, Genetic heterogeneity, Mitochondrial disease, complex I defect, Compound heterozygosity, medicine.disease, Gastroenterology, lcsh:RC346-429, Frameshift mutation, Mitochondrial respiratory chain, Neurology, Internal medicine, FOXRED1, neuroimage, Medicine, Missense mutation, Neurology (clinical), business, Encephalomalacia, cystic encephalomalacia, mitochondrial encephalopathy, lcsh:Neurology. Diseases of the nervous system, Original Research
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9d28841291b7c4fa827a38b7c90cd337Test
https://www.frontiersin.org/articles/10.3389/fneur.2021.633397/fullTest -
8
المؤلفون: Yi Wang, Yiyun Shi, Shuizhen Zhou, Chaoping Hu, Xihua Li, Lei Zhao
المصدر: Frontiers in Neurology, Vol 11 (2020)
مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Mitochondrial DNA, Cardiomyopathy, Gene mutation, Gastroenterology, lcsh:RC346-429, 03 medical and health sciences, 0302 clinical medicine, Mitochondrial myopathy, Internal medicine, cytochrome-c oxidase, medicine, gene mutation, Risk factor, lcsh:Neurology. Diseases of the nervous system, treatment, Genetic heterogeneity, business.industry, mitochondrial myopathy, medicine.disease, 030104 developmental biology, Neurology, Respiratory failure, pathology, Neurology (clinical), Chronic progressive external ophthalmoplegia, business, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1bb743bfdff4b13fc6cc0e3912ce7d40Test
https://doi.org/10.3389/fneur.2020.01000Test -
9
المؤلفون: Chaoping Hu (9352052), Yiyun Shi (9117480), Lei Zhao (144153), Shuizhen Zhou (6695027), Xihua Li (148840)
مصطلحات موضوعية: Foetal Development and Medicine, Obstetrics and Gynaecology, Paediatrics, Paediatrics and Reproductive Medicine not elsewhere classified, myotonia congenita, CLCN1 gene, mutations, genotype, phenotype
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10
المؤلفون: Chaoping Hu (9352052), Yiyun Shi (9117480), Lei Zhao (144153), Shuizhen Zhou (6695027), Xihua Li (148840)
مصطلحات موضوعية: Foetal Development and Medicine, Obstetrics and Gynaecology, Paediatrics, Paediatrics and Reproductive Medicine not elsewhere classified, myotonia congenita, CLCN1 gene, mutations, genotype, phenotype