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1دورية أكاديمية
المؤلفون: Wenyan Zhang, Ziming Yao, Ruolan Guo, Jun Cao, Wei Li, Chanjuan Hao, Xuejun Zhang
المصدر: Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-7 (2023)
مصطلحات موضوعية: Next generation sequencing (NGS), Amelogenesis imperfecta, Rare disease, Skeletal dysplasia, Surgical prognosis, Medicine
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/1750-1172Test
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2دورية أكاديمية
المؤلفون: Ruolan Guo, Yuanying Chen, Xuyun Hu, Zhan Qi, Jun Guo, Yuchuan Li, Chanjuan Hao
المصدر: BMC Medical Genomics, Vol 16, Iss 1, Pp 1-11 (2023)
مصطلحات موضوعية: Exome sequencing, FARSA gene, FARSA-deficiency, Internal medicine, RC31-1245, Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/1755-8794Test
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3دورية أكاديمية
المؤلفون: Yuanying Chen, Boliang Fang, Xuyun Hu, Ruolan Guo, Jun Guo, Kenan Fang, Jingwen Ni, Wei Li, Suyun Qian, Chanjuan Hao
المصدر: Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-10 (2021)
مصطلحات موضوعية: SLC25A19, Thiamine pyrophosphate, Thiamine metabolism dysfunction syndrome 4, Functional study, Exome sequencing, Compound heterozygosity, Medicine
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/1750-1172Test
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4دورية أكاديمية
المؤلفون: Xuyun Hu, Jun Liu, Ruolan Guo, Jun Guo, Zhipeng Zhao, Wei Li, Baoping Xu, Chanjuan Hao
المصدر: Molecular Cytogenetics, Vol 12, Iss 1, Pp 1-6 (2019)
مصطلحات موضوعية: 14q13 deletion, CNV-seq, Brain-lung-thyroid syndrome, Immunodeficiency, Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/1755-8166Test
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5
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 -
6
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 -
7
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