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1
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 -
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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: Jun Guo, Jun Liu, Zhipeng Zhao, Ruolan Guo, Chanjuan Hao, Baoping Xu, Xuyun Hu, Wei Li
المصدر: BMC Medical Genetics, Vol 20, Iss 1, Pp 1-5 (2019)
BMC Medical Geneticsمصطلحات موضوعية: Male, 0301 basic medicine, medicine.medical_specialty, lcsh:Internal medicine, Neutropenia, Majeed syndrome, Fever, lcsh:QH426-470, Anemia, Autosomal recessive, Case Report, Compound heterozygosity, Severity of Illness Index, Frameshift mutation, 03 medical and health sciences, 0302 clinical medicine, Recurrence, Genetics, medicine, Humans, lcsh:RC31-1245, Genetics (clinical), Anemia, Dyserythropoietic, Congenital, 030203 arthritis & rheumatology, medicine.diagnostic_test, business.industry, Osteomyelitis, Immunologic Deficiency Syndromes, Infant, Nuclear Proteins, medicine.disease, Dermatology, Pedigree, lcsh:Genetics, 030104 developmental biology, Erythrocyte sedimentation rate, Mutation, Female, business, Congenital dyserythropoietic anemia
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f6b9450ba33e064b3b566c8826c451fdTest
http://link.springer.com/article/10.1186/s12881-019-0919-3Test -
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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: Xuyun Hu, Ruolan Guo, Jun Guo, Zhan Qi, Wei Li, Chanjuan Hao
المصدر: Frontiers in Genetics
Frontiers in Genetics, Vol 11 (2020)مصطلحات موضوعية: 0301 basic medicine, copy number variants sequencing, lcsh:QH426-470, cost-effective, pediatric disorders, clinical utility, Computational biology, Biology, whole exome sequencing, lcsh:Genetics, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, 030220 oncology & carcinogenesis, Clinical information, Genetics, Molecular Medicine, Copy-number variation, Genetics (clinical), Exome sequencing, Likely pathogenic, Original Research
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::08ecf9ac5b41c576e193e022b567fd6dTest
https://doi.org/10.3389/fgene.2020.00473Test -
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المؤلفون: Chunxiu Gong, Chanjuan Hao, Wei Li, Xuyun Hu, Ruolan Guo, Yuanying Chen, Quan Wang, Lamei Chen, Jun Guo
المصدر: Gene. 768:145310
مصطلحات موضوعية: 0301 basic medicine, China, Adolescent, DNA Copy Number Variations, Hyperlipidemias, Disease, Biology, Bioinformatics, Polymorphism, Single Nucleotide, Coronary artery disease, 03 medical and health sciences, Lipoprotein lipase deficiency, 0302 clinical medicine, Chlorocebus aethiops, Exome Sequencing, Hyperlipidemia, Genetics, medicine, Animals, Humans, Copy-number variation, Child, Exome sequencing, Incidence (epidemiology), Infant, Newborn, High-Throughput Nucleotide Sequencing, Infant, General Medicine, medicine.disease, Early Diagnosis, 030104 developmental biology, Child, Preschool, 030220 oncology & carcinogenesis, COS Cells, Female, Sitosterolemia
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::63bb1913327c901d7476bbfeec21bb07Test
https://doi.org/10.1016/j.gene.2020.145310Test -
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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: Ying Peng, Lingqian Wu, Pu Yang, Chen Chen, Ruolan Guo, Xianda Wei, Desheng Liang, Haoxian Li, Qian Yu, Hu Tan, Yan Xia, Libin Mei, Yanru Huang
المصدر: American Journal of Medical Genetics Part A. 170:1613-1621
مصطلحات موضوعية: 0301 basic medicine, China, media_common.quotation_subject, DNA Mutational Analysis, Biology, medicine.disease_cause, Polymorphism, Single Nucleotide, 03 medical and health sciences, Exon, Genes, X-Linked, X Chromosome Inactivation, Genetics, medicine, Humans, Abnormalities, Multiple, Girl, Gene, Genetic Association Studies, In Situ Hybridization, Fluorescence, Genetics (clinical), Oligonucleotide Array Sequence Analysis, Sequence Deletion, media_common, Histone Demethylases, Mutation, Infant, Newborn, Facies, Nuclear Proteins, Chromosome, Exons, medicine.disease, Hematologic Diseases, Phenotype, 030104 developmental biology, Vestibular Diseases, Face, Female, Kabuki syndrome, Genome-Wide Association Study
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::54f24e51961c391d2a9c052d5248d757Test
https://doi.org/10.1002/ajmg.a.37634Test -
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المؤلفون: Zhan Qi, Jun Guo, Ruolan Guo, Wei Li, Ni Xin, Chanjuan Hao
المصدر: Pediatric Investigation
مصطلحات موضوعية: 0301 basic medicine, Proband, Compound heterozygosity, 03 medical and health sciences, Whole‐exome sequencing, 0302 clinical medicine, Disordered steroidogenesis, POR deficiency, medicine, Exome, Exome sequencing, Cytochrome P450 oxidoreductase, Genetics, business.industry, Crouzon syndrome, Original Articles, Micropenis, medicine.disease, POR Deficiency, 030104 developmental biology, 030220 oncology & carcinogenesis, Pediatrics, Perinatology and Child Health, Mutation (genetic algorithm), Original Article, Compound heterozygous mutation, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2b18b09fa3dc56a423e04faf2851c3e3Test
https://pubmed.ncbi.nlm.nih.gov/32851239Test -
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المؤلفون: Desheng Liang, Rui Zhang, Xianda Wei, Ruiyu Ma, Ruolan Guo, Yan Xia, Linbei Deng, Yingxi Cao, Jing Guo, Lingqian Wu
المصدر: Scientific Reports
مصطلحات موضوعية: Male, 0301 basic medicine, congenital, hereditary, and neonatal diseases and abnormalities, Pediatrics, medicine.medical_specialty, DNA Copy Number Variations, endocrine system diseases, Developmental Disabilities, Inheritance Patterns, Single-nucleotide polymorphism, Biology, Polymorphism, Single Nucleotide, Article, Germline, 03 medical and health sciences, Germline mutation, Bias, Polymorphism (computer science), Intellectual Disability, Databases, Genetic, mental disorders, Gene duplication, medicine, Humans, SNP, Abnormalities, Multiple, Copy-number variation, Child, Homologous Recombination, Germ-Line Mutation, Chromosome Aberrations, Genetics, Multidisciplinary, Breakpoint, 030104 developmental biology, Female, Microsatellite Repeats
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8dd352df83f9e5a406414b9f56ac3985Test
https://doi.org/10.1038/srep44446Test