المؤلفون: Peiyi Yang, Na Xu, Yan Su, Chao Duan, Shengcai Wang, Libing Fu, Tong Yu, Ruolan Guo, Xiaoli Ma

المصدر: Frontiers in Oncology, Vol 12 (2023)

مصطلحات موضوعية: infant, spindle cell rhabdomyosarcoma, tongue, susceptibility gene, case report, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282

وصف الملف: electronic resource

العلاقة: https://www.frontiersin.org/articles/10.3389/fonc.2022.934882/fullTest; https://doaj.org/toc/2234-943XTest

الوصول الحر: https://doaj.org/article/f0a3d85248f1438ba65ea678ef16d1d6Test

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

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 Genetics

مصطلحات 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

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

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

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

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 Medicine

مصطلحات 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