-
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 -
2
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 -
3
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 -
4
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 -
5
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 -
6
المؤلفون: Yanlong Duan, Ruolan Guo, Ningning Zhang, Wei Li, Fang Fang, Yonghong Zhang, Qinlin Yu, Virendra Mishra, Minhui Ouyang, Qinmu Peng, Hao Huang, Yun Peng, Xiaolu Tang, Miao Zhang, Huiying Kang
المصدر: European Journal of Radiology. 102:22-29
مصطلحات موضوعية: Male, Internal capsule, Adolescent, 030218 nuclear medicine & medical imaging, White matter, 03 medical and health sciences, 0302 clinical medicine, Internal Capsule, Corona radiata, Middle Cerebellar Peduncle, Fractional anisotropy, medicine, Middle cerebellar peduncle, Humans, Radiology, Nuclear Medicine and imaging, Child, Gaucher Disease, business.industry, General Medicine, Anatomy, Magnetic Resonance Imaging, White Matter, Mr imaging, Diffusion Tensor Imaging, Superior cerebellar peduncle, medicine.anatomical_structure, Case-Control Studies, Anisotropy, Female, Nerve Net, business, 030217 neurology & neurosurgery, Diffusion MRI
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ef24444acf9ee3ff2434ce1c721dc13aTest
https://doi.org/10.1016/j.ejrad.2018.02.014Test -
7
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 -
8
المؤلفون: Chen, Jiang, Nan, Pan, Weigang, Lyu, Ying, Peng, Jing, Liu, Ruolan, Guo, Jiazhen, Chang, Desheng, Liang, Lingqian, Wu
المصدر: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics. 36(4)
مصطلحات موضوعية: Fragile X Mental Retardation Protein, DNA Copy Number Variations, Methyl-CpG-Binding Protein 2, Pregnancy, Mental Retardation, X-Linked, Humans, Female, Pedigree
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::783ab63abb55f5072019d7d73208e3aeTest
https://pubmed.ncbi.nlm.nih.gov/30950021Test -
9
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 -
10
المؤلفون: Jiazhen Chang, Zhuo Song, Yu Zheng, Ruolan Guo, David S. Cram, Ting Bai, Xianda Wei, Jianguang Zhang, Qin Liu, Lingqian Wu, Desheng Liang, Weigang Lv, Haoxian Li
المصدر: Clinical Chemistry. 61:172-181
مصطلحات موضوعية: Male, Proband, Heterozygote, DNA Mutational Analysis, Clinical Biochemistry, Mutant, Gestational Age, Pedigree chart, Gene mutation, Biology, Hepatolenticular Degeneration, Pregnancy, Prenatal Diagnosis, Genotype, Humans, Allele, Cation Transport Proteins, Alleles, Adenosine Triphosphatases, Genetics, Hybridization probe, Inverse polymerase chain reaction, Homozygote, Biochemistry (medical), DNA, Molecular Diagnostic Techniques, Copper-Transporting ATPases, Female, DNA Probes
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1799147bbf3540081fbb540019c4a270Test
https://doi.org/10.1373/clinchem.2014.229328Test