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1دورية أكاديمية
المؤلفون: Ruolan Guo, Yuanying Chen, Xuyun Hu, Zhan Qi, Jun Guo, Yuchuan Li, Chanjuan Hao
المصدر: BMC Medical Genomics, Vol 16, Iss 1, Pp 1-11 (2023)
مصطلحات موضوعية: Exome sequencing, FARSA gene, FARSA-deficiency, Internal medicine, RC31-1245, Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/1755-8794Test
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2دورية أكاديمية
المؤلفون: Yue Zhang, Ying Li, Ruolan Guo, Wenjian Xu, Xuanshi Liu, Chunlin Zhao, Qi Guo, Wenshan Xu, Xin Ni, Chanjuan Hao, Yonghua Cui, Wei Li
المصدر: Frontiers in Genetics, Vol 14 (2023)
مصطلحات موضوعية: autism spectrum disorder, whole-genome sequencing, RNA sequencing, copy number variation, single nucleotide variation, Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: https://www.frontiersin.org/articles/10.3389/fgene.2023.1108440/fullTest; https://doaj.org/toc/1664-8021Test
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3دورية أكاديمية
المؤلفون: Xuyun Hu, Jun Liu, Ruolan Guo, Jun Guo, Zhipeng Zhao, Wei Li, Baoping Xu, Chanjuan Hao
المصدر: Molecular Cytogenetics, Vol 12, Iss 1, Pp 1-6 (2019)
مصطلحات موضوعية: 14q13 deletion, CNV-seq, Brain-lung-thyroid syndrome, Immunodeficiency, Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/1755-8166Test
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4دورية أكاديمية
المؤلفون: Yingchao Liu, Chanjuan Hao, Kechun Li, Xuyun Hu, Hengmiao Gao, Jiansheng Zeng, Ruolan Guo, Jun Liu, Jun Guo, Zheng Li, Zhan Qi, Xinlei Jia, Wei Li, Suyun Qian
المصدر: Frontiers in Genetics, Vol 12 (2021)
مصطلحات موضوعية: whole exome sequence, pediatric intensive care unit, monogenic disorders, clinical application, effective, Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: https://www.frontiersin.org/articles/10.3389/fgene.2021.677699/fullTest; https://doaj.org/toc/1664-8021Test
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5دورية أكاديمية
المؤلفون: Xuyun Hu, Ruolan Guo, Jun Guo, Zhan Qi, Wei Li, Chanjuan Hao
المصدر: Frontiers in Genetics, Vol 11 (2020)
مصطلحات موضوعية: whole exome sequencing, copy number variants sequencing, pediatric disorders, cost-effective, clinical utility, Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: https://www.frontiersin.org/article/10.3389/fgene.2020.00473/fullTest; https://doaj.org/toc/1664-8021Test
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6دورية أكاديمية
المؤلفون: Qirui Li, Ruolan Guo, Lu Gao, Lang Cui, Zhihui Zhao, Xia Yu, Yue Yuan, Xiwei Xu
المصدر: Molecular Genetics & Genomic Medicine, Vol 7, Iss 11, Pp n/a-n/a (2019)
مصطلحات موضوعية: autosomal recessive, CASQ2 variants, catecholaminergic polymorphic ventricular tachycardia, targeted next‐generation sequencing, Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/2324-9269Test
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7دورية أكاديمية
المؤلفون: Jun Guo, Zheng Li, Chanjuan Hao, Ruolan Guo, Xuyun Hu, Suyun Qian, Jiansheng Zeng, Hengmiao Gao, Wei Li
المصدر: Molecular Genetics & Genomic Medicine, Vol 7, Iss 8, Pp n/a-n/a (2019)
مصطلحات موضوعية: CASZ1 variant, DCM, LVNC, whole‐exome sequencing, Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/2324-9269Test
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8
المؤلفون: Yue Zhang, Ying Li, Ruolan Guo, Wenjian Xu, Xuanshi Liu, Chunlin Zhao, Qi Guo, Wenshan Xu, Xin Ni, Chanjuan Hao, Yonghua Cui, Wei Li
مصطلحات موضوعية: Genetics, Genetic Engineering, Biomarkers, Developmental Genetics (incl. Sex Determination), Epigenetics (incl. Genome Methylation and Epigenomics), Gene Expression (incl. Microarray and other genome-wide approaches), Genome Structure and Regulation, Genomics, Genetically Modified Animals, Livestock Cloning, Gene and Molecular Therapy, autism spectrum disorder, whole-genome sequencing, RNA sequencing, copy number variation, single nucleotide variation
الإتاحة: https://doi.org/10.3389/fgene.2023.1108440.s001Test
https://figshare.com/articles/dataset/DataSheet1_Genetic_diagnostic_yields_of_354_Chinese_ASD_children_with_rare_mutations_by_a_pipeline_of_genomic_tests_docx/22322566Test -
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المؤلفون: Chanjuan Hao, Xuyun Hu, Kenan Fang, Jingwen Ni, Jun Guo, Wei Li, Suyun Qian, Boliang Fang, Yuanying Chen, Ruolan Guo
المصدر: Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-10 (2021)
Orphanet Journal of Rare Diseasesمصطلحات موضوعية: Exome sequencing, Encephalopathy, Functional study, Biology, Compound heterozygosity, Genetic analysis, Mitochondrial Membrane Transport Proteins, chemistry.chemical_compound, symbols.namesake, Thiamine metabolism dysfunction syndrome 4, medicine, Humans, Pharmacology (medical), Thiamine, Fever of unknown origin, Genetics (clinical), Sanger sequencing, Genetics, Brain Diseases, Research, Membrane Transport Proteins, Thiamine Deficiency, General Medicine, medicine.disease, Human genetics, Phenotype, chemistry, Mutation, symbols, Medicine, Thiamine pyrophosphate, SLC25A19
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bf3bb0471acbbe7290690ec335c05695Test
https://doaj.org/article/461027c381034d498687e1811b6ce7b3Test -
10
المؤلفون: Wei Li, Xinlei Jia, Suyun Qian, Boliang Fang, Jun Guo, Chanjuan Hao, Ruolan Guo
المصدر: Clinica Chimica Acta. 501:131-135
مصطلحات موضوعية: 0301 basic medicine, Proband, China, Clinical Biochemistry, Population, Compound heterozygosity, Biochemistry, Frameshift mutation, 03 medical and health sciences, Cystic kidney disease, 0302 clinical medicine, Nephronophthisis, Exome Sequencing, Humans, Medicine, education, Exome sequencing, Genetics, education.field_of_study, business.industry, Biochemistry (medical), Infant, Nuclear Proteins, Anemia, General Medicine, Kidney Diseases, Cystic, medicine.disease, Thrombocytopenia, 030104 developmental biology, Child, Preschool, 030220 oncology & carcinogenesis, Mutation, Mutation (genetic algorithm), Kidney Failure, Chronic, Female, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9650bd9b1ce842f4528a80b5d967bdcfTest
https://doi.org/10.1016/j.cca.2019.10.030Test