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, 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 Cytogenetics

مصطلحات 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

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: Yun Peng, Chanjuan Hao, Weihong Guo, Wenjun Mou, Jianxin He, Jin-Shi Huang, Li Zhang, Ruolan Guo, Qinghua Ren, Shen Yang, Libing Fu, Jingang Gui, Jing-Bin Du

مصطلحات موضوعية: Genetics, business.industry, medicine, Multiple intestinal atresia, Missense mutation, medicine.disease, business, Immunodeficiency

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::df8d62c646d76be031fac9c653628e38Test
https://doi.org/10.21203/rs.3.rs-635099/v1Test

المؤلفون: Xuyun Hu, Zhan Qi, Chanjuan Hao, Xin-Lei Jia, Yingchao Liu, Jiansheng Zeng, Jun Liu, Kechun Li, Heng-Miao Gao, Ruolan Guo, Jun Guo, Suyun Qian, Zheng Li, Wei Li

المصدر: Frontiers in Genetics
Frontiers in Genetics, Vol 12 (2021)

مصطلحات موضوعية: Pediatric intensive care unit, Pediatrics, medicine.medical_specialty, Neuromuscular disease, Rehabilitation, Palliative care, whole exome sequence, business.industry, medicine.medical_treatment, QH426-470, medicine.disease, monogenic disorders, clinical application, Intensive care, Human Phenotype Ontology, Genetics, effective, Molecular Medicine, Medicine, Metabolic disease, business, pediatric intensive care unit, Genetics (clinical), Exome sequencing, Original Research

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6dc0397f5b1474f997c28257d5cc9c4aTest
https://pubmed.ncbi.nlm.nih.gov/34539730Test

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

مصطلحات موضوعية: medicine.anatomical_structure, Text mining, genetic structures, Tongue, business.industry, medicine, Susceptibility gene, Rhabdomyosarcoma, medicine.disease, Bioinformatics, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::d91a067523af9133e1b957d408c65ee0Test
https://doi.org/10.21203/rs.3.rs-285585/v1Test

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

المؤلفون: Ruolan Guo, Chanjuan Hao, Weili Yang, Jun Guo, Xuyun Hu, Yuanying Chen, Yingjun Feng, Wei Li, Qiqing Sun

المصدر: Pediatric Investigation, Vol 4, Iss 1, Pp 11-16 (2020)
Pediatric Investigation

مصطلحات موضوعية: Genetics, medicine.medical_specialty, Original Arti Cle, business.industry, Trio whole‐exome sequencing, Cardiomyopathy, Dilated cardiomyopathy, Genomics, RNA‐binding motif protein 20, medicine.disease, Phenotype, Pediatrics, RJ1-570, Exon, Left ventricular non‐compaction cardiomyopathy, Pediatrics, Perinatology and Child Health, medicine, Medical genetics, Original Article, business, Gene, Exome sequencing

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::23580fd91fac2e26187c5014dacb6d07Test
https://pubmed.ncbi.nlm.nih.gov/32851336Test

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

المؤلفون: Chanjuan Hao, Pengfei Zhang, Suyun Qian, Jun Liu, Xuyun Hu, Ruolan Guo, Jun Guo, Wei Li

المصدر: Pediatric Investigation, Vol 3, Iss 2, Pp 86-90 (2019)
Pediatric Investigation

مصطلحات موضوعية: Proband, medicine.medical_specialty, Hypoglycemia, Bioinformatics, Pediatrics, RJ1-570, law.invention, Whole‐exome sequencing, law, HMGCS2 mutation, Genotype, medicine, Pediatric intensive care unit, Exome sequencing, Hypoketotic hypoglycemia, Molecular pathology, business.industry, Original Articles, medicine.disease, Intensive care unit, Mitochondrial HMG‐CoA synthase deficiency, Pediatrics, Perinatology and Child Health, Medical genetics, Original Article, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::abce01353c62c7051bc71a3251f27336Test
https://pubmed.ncbi.nlm.nih.gov/32851297Test