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المؤلفون: Jun Guo, Ruolan Guo, Zhipeng Zhao, Jun Liu, Chanjuan Hao, Xuyun Hu, Wei Li, Baoping Xu
المصدر: Molecular Cytogenetics, Vol 12, Iss 1, Pp 1-6 (2019)
Molecular Cytogeneticsمصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, lcsh:QH426-470, Case Report, 030105 genetics & heredity, CNV-seq, Biochemistry, Short stature, 03 medical and health sciences, Genetics, medicine, Immunodeficiency, Copy-number variation, Molecular Biology, Genetics (clinical), Exome sequencing, business.industry, Biochemistry (medical), Cytogenetics, medicine.disease, Brain-lung-thyroid syndrome, Human genetics, FOXG1, lcsh:Genetics, 030104 developmental biology, Molecular Medicine, 14q13 deletion, medicine.symptom, business, PAX9
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::153efaacb6e5d1ff0f773e4255d6566cTest
https://doaj.org/article/32d1817aeede487790ef2ad71a7c340bTest -
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المؤلفون: Yuanhu Liu, Feng Jin, Xuyun Hu, Wenjie Li, Zhang Yan, Xiujie Wu, Xiaofen Zhang, Weimin Yang, Quansheng Xing, Chanjuan Hao, Xiaohua Wang, Xiulian Jiang, Ren Cai, Xiaoping Ji, Ruolan Guo, Yanhua Sun, Xijiang Hu, Xue Yang, Qianli Yin, Xuanshi Liu, Zhan Qi, Wei Li, Ni Xin, Lanfang Mu, Dingyuan Zeng, Qi Guo
المصدر: Journal of genetics and genomics = Yi chuan xue bao. 49(1)
مصطلحات موضوعية: Male, Pediatrics, medicine.medical_specialty, Newborn screening, China, Infant, Newborn, High-Throughput Nucleotide Sequencing, Infant, Disease, Biology, Clinical study, Clinical Practice, Neonatal Screening, Clinical diagnosis, Genetics, medicine, Humans, Female, High incidence, Child, Molecular Biology, Retrospective Studies
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5c702a90f78bce3100cd53b9cd09e2edTest
https://pubmed.ncbi.nlm.nih.gov/34474183Test -
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المؤلفون: Ruolan Guo, Ni Xin, Qi Guo, Wenjian Xu, Xuanshi Liu, Chanjuan Hao, Yue Zhang, Wei Li
المصدر: Bioscience Reports
مصطلحات موضوعية: 0301 basic medicine, Autism Spectrum Disorder, Biophysics, Genomics, Biology, Gene mutation, Risk Assessment, behavioral disciplines and activities, Biochemistry, Molecular Bases of Health & Disease, genetic basis, 03 medical and health sciences, 0302 clinical medicine, Predictive Value of Tests, Risk Factors, Genetic etiology, mental disorders, Genetic variation, medicine, Animals, Humans, Genetic Predisposition to Disease, Review Articles, Molecular Biology, Gene, genomic structural variation, Genetics, Whole genome sequencing, neurodevelopment, Genetic Variation, Cell Biology, medicine.disease, Phenotype, 030104 developmental biology, Genetic Loci, whole-genome sequencing, Autism spectrum disorder, Autism, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b364597c3552733e074899de67809017Test
https://doi.org/10.1042/bsr20210593Test -
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المؤلفون: Weiwei Jiao, Adong Shen, Gang Liu, Haijuan Xiao, Wei Li, Xuyun Hu, Jingang Gui, Chanjuan Hao, Fang Xu, Linlin Liu, Ruolan Guo, Lingyun Guo
المصدر: Journal of genetics and genomics = Yi chuan xue bao. 47(4)
مصطلحات موضوعية: Male, China, Primary Immunodeficiency Diseases, Vaccination, MEDLINE, High-Throughput Nucleotide Sequencing, Infant, Mycobacterium tuberculosis, Biology, medicine.disease, Virology, DNA sequencing, Genetics, Primary immunodeficiency, medicine, BCG Vaccine, Humans, Tuberculosis, Female, Molecular Biology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e325bfbe470dfe4e59832965dfdb555aTest
https://pubmed.ncbi.nlm.nih.gov/32482412Test -
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المؤلفون: Ruolan Guo, Qirui Li, Xia Yu, Yue Yuan, Xiwei Xu, Lang Cui, Lu Gao, Zhihui Zhao
المصدر: Molecular Genetics & Genomic Medicine, Vol 7, Iss 11, Pp n/a-n/a (2019)
Molecular Genetics & Genomic Medicineمصطلحات موضوعية: Male, Heterozygote, Genotype, CASQ2 variants, lcsh:QH426-470, media_common.quotation_subject, Nonsense, Biology, Catecholaminergic polymorphic ventricular tachycardia, Frameshift mutation, Sudden cardiac death, symbols.namesake, Asian People, Genetics, medicine, Calsequestrin, Humans, Missense mutation, Child, Molecular Biology, Genetics (clinical), media_common, Sanger sequencing, catecholaminergic polymorphic ventricular tachycardia, Homozygote, High-Throughput Nucleotide Sequencing, autosomal recessive, Original Articles, Prognosis, medicine.disease, Pedigree, lcsh:Genetics, Phenotype, Child, Preschool, Mutation, Tachycardia, Ventricular, symbols, Functional significance, Female, Original Article, Inherited disease, targeted next‐generation sequencing, Follow-Up Studies
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7be9728c8cd6db17bd952a9b873c5aedTest
https://doi.org/10.1002/mgg3.949Test -
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المؤلفون: Jiansheng Zeng, Suyun Qian, Zheng Li, Wei Li, Ruolan Guo, Jun Guo, Chanjuan Hao, Hengmiao Gao, Xuyun Hu
المصدر: Molecular Genetics & Genomic Medicine, Vol 7, Iss 8, Pp n/a-n/a (2019)
Molecular Genetics & Genomic Medicineمصطلحات موضوعية: Male, 0301 basic medicine, Proband, DNA Mutational Analysis, Cardiomyopathy, 030105 genetics & heredity, Fatal Outcome, Medicine, Frameshift Mutation, Genetics (clinical), Exome sequencing, Sanger sequencing, DCM, Isolated Noncompaction of the Ventricular Myocardium, Clinical Report, Heart, Dilated cardiomyopathy, Left ventricular noncompaction cardiomyopathy, DNA-Binding Proteins, Echocardiography, Ventricular Fibrillation, cardiovascular system, Cardiology, symbols, whole‐exome sequencing, LVNC, CASZ1 variant, Cardiomyopathy, Dilated, Heterozygote, medicine.medical_specialty, lcsh:QH426-470, Clinical Reports, Frameshift mutation, 03 medical and health sciences, symbols.namesake, Asian People, Internal medicine, Exome Sequencing, Genetics, Humans, cardiovascular diseases, Molecular Biology, business.industry, Infant, medicine.disease, lcsh:Genetics, 030104 developmental biology, Heart failure, business, Transcription Factors
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::96ba6d9c8c6e182cd3e86b5af985968aTest
https://doi.org/10.1002/mgg3.828Test -
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المؤلفون: Ruolan Guo, Haoxian Li, Ruiyu Ma, Lingqian Wu, Yan Xia, Chengyuan Tang, Ying Peng, Yanghui Zhang, Juan Wen, Rui Zhang, Yingjie Zhou, Desheng Liang, Qian Pan
المصدر: Molecular Cytogenetics
مصطلحات موضوعية: medicine.medical_specialty, Heart disease, Ring chromosome, Non-reciprocal translocation, Chromosomal translocation, Case Report, Biology, Biochemistry, Chromosome 15, Chromosome (genetic algorithm), Genetics, medicine, Genetics(clinical), Molecular Biology, Genetics (clinical), X chromosome, Congenital heart disease, Biochemistry, medical, Ring chromosome 11, Biochemistry (medical), Cytogenetics, medicine.disease, 11q terminal deletions, Molecular Medicine, Chromosome 21
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ecf359379d20d18f8056dce0a556daf9Test
http://europepmc.org/articles/PMC4638084Test -
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المؤلفون: Desheng Liang, Jiazhen Chang, Ying Peng, Baoheng Gui, Lingqian Wu, Yan Xia, Guizhi Tang, Yanghui Zhang, Chen Chen, Ruiyu Ma, Ruolan Guo, Yanru Huang
المصدر: Molecular Cytogenetics
مصطلحات موضوعية: medicine.medical_specialty, Neocentromere, Marker chromosome, Case Report, Biology, Biochemistry, medicine, Genetics, sSMC, Supernumerary, Genetics(clinical), Small supernumerary marker chromosome, Molecular Biology, Genetics (clinical), Biochemistry, medical, Biochemistry (medical), Cytogenetics, Growth retardation, medicine.disease, Molecular Medicine, SNP array, Chromosome 21, Trisomy, Partial trisomy 2q3
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e94726b4dd78026ed44d4850a59c1fb1Test