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المؤلفون: Chanjuan Hao, Xuyun Hu, Kenan Fang, Jingwen Ni, Jun Guo, Wei Li, Suyun Qian, Boliang Fang, Yuanying Chen, Ruolan Guo
المصدر: Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-10 (2021)
Orphanet Journal of Rare Diseasesمصطلحات موضوعية: Exome sequencing, Encephalopathy, Functional study, Biology, Compound heterozygosity, Genetic analysis, Mitochondrial Membrane Transport Proteins, chemistry.chemical_compound, symbols.namesake, Thiamine metabolism dysfunction syndrome 4, medicine, Humans, Pharmacology (medical), Thiamine, Fever of unknown origin, Genetics (clinical), Sanger sequencing, Genetics, Brain Diseases, Research, Membrane Transport Proteins, Thiamine Deficiency, General Medicine, medicine.disease, Human genetics, Phenotype, chemistry, Mutation, symbols, Medicine, Thiamine pyrophosphate, SLC25A19
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bf3bb0471acbbe7290690ec335c05695Test
https://doaj.org/article/461027c381034d498687e1811b6ce7b3Test -
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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: Wenyan Zhang, Ziming Yao, Ruolan Guo, Haichong Li, Shuang Zhao, Wei Li, Xuejun Zhang, Chanjuan Hao
مصطلحات موضوعية: Dermatology, Emergency Medicine, Gastroenterology and Hepatology, Geriatrics and Gerontology, Intensive Care, Medical Genetics (excl. Cancer Genetics), Nephrology and Urology, Nuclear Medicine, Orthopaedics, Otorhinolaryngology, Pathology (excl. Oral Pathology), Radiology and Organ Imaging, Foetal Development and Medicine, Obstetrics and Gynaecology, Family Care, Primary Health Care, Medical and Health Sciences not elsewhere classified, congenital scoliosis (CS), T-box transcription factor 6 (TBX6), surgical treatment, prognosis, rare disease
الإتاحة: https://doi.org/10.3389/fmed.2022.941468.s001Test
https://figshare.com/articles/dataset/Data_Sheet_1_Molecular_identification_of_T-box_transcription_factor_6_and_prognostic_assessment_in_patients_with_congenital_scoliosis_A_single-center_study_PDF/20470194Test -
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المؤلفون: Haichong Li, Wenyan Zhang, Ziming Yao, Ruolan Guo, Chanjuan Hao, Xuejun Zhang
مصطلحات موضوعية: Foetal Development and Medicine, Obstetrics and Gynaecology, Paediatrics, Paediatrics and Reproductive Medicine not elsewhere classified, NF1, exome sequencing, dystrophic scoliosis, growing-rod surgery, posterior spinal fusion, mutation detection rate
الإتاحة: https://doi.org/10.3389/fped.2022.918136.s001Test
https://figshare.com/articles/dataset/Data_Sheet_1_Genotypes_and_clinical_intervention_of_patients_with_neurofibromatosis_type_1_associated_dystrophic_scoliosis_PDF/20508876Test -
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المؤلفون: Yuanying Chen, Qiqing Sun, Chanjuan Hao, Ruolan Guo, Chentong Wang, Weili Yang, Yaodong Zhang, Fangjie Wang, Wei Li, Jun Guo
مصطلحات موضوعية: Dermatology, Emergency Medicine, Gastroenterology and Hepatology, Geriatrics and Gerontology, Intensive Care, Medical Genetics (excl. Cancer Genetics), Nephrology and Urology, Nuclear Medicine, Orthopaedics, Otorhinolaryngology, Pathology (excl. Oral Pathology), Radiology and Organ Imaging, Foetal Development and Medicine, Obstetrics and Gynaecology, Family Care, Primary Health Care, Medical and Health Sciences not elsewhere classified, N-cadherin, dilated cardiomyopathy, cell-cell adhesion, de novo variant, whole exome sequencing
الإتاحة: https://doi.org/10.3389/fmed.2022.944950.s004Test
https://figshare.com/articles/dataset/Table_3_Identification_of_a_novel_variant_in_N-cadherin_associated_with_dilated_cardiomyopathy_XLSX/20726374Test -
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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: 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