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1دورية أكاديمية
المؤلفون: Xiufang Feng, Jiangyuan Ping, Shan Gao, Dong Han, Wenxia Song, Xiaoze Li, Yilun Tao, Lihong Wang
المصدر: Scientific Reports, Vol 14, Iss 1, Pp 1-7 (2024)
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2045-2322
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2دورية أكاديمية
المؤلفون: Yilun Tao, Lin Yang, Dong Han, Chen Zhao, Wenxia Song, Haiwei Wang, Xiaoze Li, Lihong Wang
المصدر: Frontiers in Genetics, Vol 14 (2023)
مصطلحات موضوعية: GATA3 gene, HDR syndrome, next-generation sequencing, splice site variant, review, Genetics, QH426-470
وصف الملف: electronic resource
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3دورية أكاديمية
المؤلفون: Yilun Tao, Chen Zhao, Dong Han, Yiju Wei, Lihong Wang, Wenxia Song, Xiaoze Li
المصدر: Frontiers in Neurology, Vol 14 (2023)
مصطلحات موضوعية: PANK2 gene, pantothenate kinase-associated neurodegeneration, whole exome sequencing, case report, review, Neurology. Diseases of the nervous system, RC346-429
وصف الملف: electronic resource
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4دورية أكاديمية
المؤلفون: Liheng Chen, Lihong Wang, Zhipeng Hu, Yilun Tao, Wenxia Song, Yu An, Xiaoze Li
المصدر: Frontiers in Genetics, Vol 13 (2022)
مصطلحات موضوعية: non-invasive prenatal testing (NIPT), copy number variations (CNVs), aneuploidies, prenatal diagnosis, birth defects, positive predictive value (PPV), Genetics, QH426-470
وصف الملف: electronic resource
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5دورية أكاديمية
المؤلفون: Yilun Tao, Dong Han, Yiju Wei, Lihong Wang, Wenxia Song, Xiaoze Li
المصدر: Frontiers in Genetics, Vol 12 (2021)
مصطلحات موضوعية: maternal uniparental disomy, chromosome 2, UNC80 gene, SNP array, whole exome sequencing, Genetics, QH426-470
وصف الملف: electronic resource
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المؤلفون: Dong Han, Huiyi Shen, Yilun Tao, Xiaoze Li
المصدر: Brain and Development. 43:220-229
مصطلحات موضوعية: Male, China, Genotype, Phenylalanine hydroxylase, Biology, Gene mutation, 03 medical and health sciences, symbols.namesake, Neonatal Screening, 0302 clinical medicine, Hyperphenylalaninemia, Asian People, Gene Frequency, Developmental Neuroscience, Phenylketonurias, medicine, Humans, Multiplex ligation-dependent probe amplification, Allele, Alleles, Genetic Association Studies, Sanger sequencing, Genetics, Infant, Newborn, Phenylalanine Hydroxylase, General Medicine, medicine.disease, Phenotype, Pediatrics, Perinatology and Child Health, symbols, biology.protein, Female, Neurology (clinical), 030217 neurology & neurosurgery
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المؤلفون: Yiju Wei, Yilun Tao, Wenxia Song, Dong Han, Xiaoze Li, Lihong Wang
المصدر: Frontiers in Genetics, Vol 12 (2021)
Frontiers in Geneticsمصطلحات موضوعية: Proband, congenital, hereditary, and neonatal diseases and abnormalities, Case Report, Biology, QH426-470, whole exome sequencing, symbols.namesake, Neurodevelopmental disorder, medicine, Genetics, Global developmental delay, chromosome 2, Genetics (clinical), Exome sequencing, Sanger sequencing, Psychomotor retardation, UNC80 gene, medicine.disease, Uniparental Isodisomy, symbols, Molecular Medicine, medicine.symptom, maternal uniparental disomy, SNP array
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::868c4e1dd378ff71eea6934b8d4d45b4
https://www.frontiersin.org/articles/10.3389/fgene.2021.747422/full -
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المؤلفون: Dong Han, Lihong Wang, Yilun Tao, Chenggang Huang, Xiaoze Li, Lili Yue, Xi-Yuan Li, Dandan Lu
المصدر: Clinica chimica acta; international journal of clinical chemistry. 509
مصطلحات موضوعية: 0301 basic medicine, China, Nucleocytoplasmic Transport Proteins, media_common.quotation_subject, Clinical Biochemistry, Encephalopathy, Nonsense, Disease, Biochemistry, Mitochondrial Proteins, 03 medical and health sciences, 0302 clinical medicine, Ethylmalonic encephalopathy, medicine, Humans, Purpura, Genetic testing, media_common, Newborn screening, medicine.diagnostic_test, business.industry, Biochemistry (medical), Infant, Newborn, Brain Diseases, Metabolic, Inborn, Neurodegenerative Diseases, General Medicine, medicine.disease, 030104 developmental biology, Phenotype, 030220 oncology & carcinogenesis, Immunology, ETHE1, business, Developmental regression