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المؤلفون: Wenyan Zhang, Feng Jin, Ruolan Guo, Zhan Qi, Yaling Wang, Xueling Li, Yali Wu, Wei Li, Xuyun Hu, Chanjuan Hao
المصدر: Genetic Testing and Molecular Biomarkers. 26:573-581
مصطلحات موضوعية: Heterozygote, Neonatal Screening, Infant, Newborn, Congenital Hypothyroidism, Humans, Thyrotropin, Receptors, Thyrotropin, Genetic Testing, General Medicine, Child, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::be6a998e39245d6ca187e4e522235c93Test
https://doi.org/10.1089/gtmb.2022.0100Test -
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المؤلفون: Wenjun, Mou, Shen, Yang, Ruolan, Guo, Libing, Fu, Li, Zhang, Weihong, Guo, Jingbin, Du, Jianxin, He, Qinghua, Ren, Chanjuan, Hao, Jingang, Gui, Jinshi, Huang
المصدر: Frontiers in Immunology
مصطلحات موضوعية: Male, tetratricopeptide repeat domain 7A, neonatal sepsis, prohibited lymphocyte development, Immunology, Intestinal Atresia, Mutation, Missense, Proteins, Humans, combined immunodeficiency, Severe Combined Immunodeficiency, Child, multiple intestinal atresia, Original Research
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::f4600a0def1627fd33f98e51f9a45842Test
https://pubmed.ncbi.nlm.nih.gov/34975848Test -
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المؤلفون: Lijuan, Jia, Yuanying, Chen, Chanjuan, Hao, Ruolan, Guo, Yanjie, Liu, Wei, Li, Jun, Guo, Yingjun, Feng
المصدر: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics. 38(8)
مصطلحات موضوعية: Cardiomyopathy, Restrictive, Heterozygote, Mutation, Exome Sequencing, Humans, Genomics, Child
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::680b0b3d69699df82815e744f8ed6420Test
https://pubmed.ncbi.nlm.nih.gov/34365612Test -
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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: Hao Wang, Wei Li, Xuyun Hu, Zhan Qi, Yao Yao, Zhipeng Zhao, Jun Yin, Jun Liu, Lanqin Chen, Chanjuan Hao, Jun Guo, Ruolan Guo, Baoping Xu
المصدر: Human mutationREFERENCES. 42(7)
مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, DNA Copy Number Variations, Disease, Biology, Cohort Studies, 03 medical and health sciences, Exome Sequencing, Genetics, medicine, Humans, Exome, Copy-number variation, Genetic Testing, Child, Genetics (clinical), Exome sequencing, 030304 developmental biology, Primary ciliary dyskinesia, Genetic testing, 0303 health sciences, medicine.diagnostic_test, Genetic heterogeneity, 030305 genetics & heredity, medicine.disease, Precision medicine, Primary immunodeficiency
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6fe5b15918184bcc95ebdc83d5e94c4eTest
https://pubmed.ncbi.nlm.nih.gov/33942430Test -
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المؤلفون: Xuyun, Hu, Ruolan, Guo, Jun, Guo, Wei, Li, Li, Liu, Chanjuan, Hao
المصدر: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics. 36(12)
مصطلحات موضوعية: Foot Deformities, Congenital, Intellectual Disability, Mutation, Facies, Humans, Child, Hypotrichosis, Transcription Factors
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::4468e2f2eef69f1f5bf9f9e136219936Test
https://pubmed.ncbi.nlm.nih.gov/31813144Test -
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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: 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 -
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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: 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