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1دورية أكاديمية
المؤلفون: Zhen Zhang, Ti-Long Huang, Jing Ma, Wen-Ji He, Huaiyu Gu
المصدر: BMC Medical Genetics, Vol 20, Iss 1, Pp 1-6 (2019)
مصطلحات موضوعية: Novel variants, PMM2-CDG, Children, Hani ethnic minority, Internal medicine, RC31-1245, Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: http://link.springer.com/article/10.1186/s12881-019-0902-zTest; https://doaj.org/toc/1471-2350Test
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2دورية أكاديمية
المؤلفون: Ti-Long Huang, Bao-Hua Sang, Qing-Ling Lei, Chun-Yan Song, Yun-Bi Lin, Yu Lv, Chun-Hui Yang, Na Li, Yue-Huang Yang, Xian-Wen Zhang, Xin Tian
المصدر: BMC Pediatrics, Vol 19, Iss 1, Pp 1-5 (2019)
مصطلحات موضوعية: Hereditary spherocytosis- ANK1- frameshift mutation, Pediatrics, RJ1-570
وصف الملف: electronic resource
العلاقة: http://link.springer.com/article/10.1186/s12887-019-1436-4Test; https://doaj.org/toc/1471-2431Test
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3دورية أكاديمية
المؤلفون: Ti-Long Huang, Tian-Yao Zhang, Chun-Yan Song, Yun-Bi Lin, Bao-Hua Sang, Qing-Ling Lei, Yu Lv, Chun-Hui Yang, Na Li, Xin Tian, Yue-Huang Yang, Xian-Wen Zhang
المصدر: Frontiers in Pediatrics, Vol 8 (2020)
مصطلحات موضوعية: thalassemia, gene mutation spectrum, children, Yunnan province, China, Pediatrics, RJ1-570
وصف الملف: electronic resource
العلاقة: https://www.frontiersin.org/article/10.3389/fped.2020.00159/fullTest; https://doaj.org/toc/2296-2360Test
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المؤلفون: Jing Ma, He Wenji, Ti-Long Huang, Huaiyu Gu, Zhen Zhang
المصدر: BMC Medical Genetics, Vol 20, Iss 1, Pp 1-6 (2019)
BMC Medical Geneticsمصطلحات موضوعية: 0301 basic medicine, Proband, Male, congenital, hereditary, and neonatal diseases and abnormalities, lcsh:Internal medicine, lcsh:QH426-470, Population, Mannose, Case Report, medicine.disease_cause, Compound heterozygosity, PMM2-CDG, 03 medical and health sciences, symbols.namesake, chemistry.chemical_compound, 0302 clinical medicine, Congenital Disorders of Glycosylation, Exome Sequencing, Genetics, medicine, Ethnicity, Humans, education, lcsh:RC31-1245, Children, Genetics (clinical), Exome sequencing, Sanger sequencing, Mutation, education.field_of_study, Cerebellar ataxia, business.industry, Siblings, Infant, Pedigree, lcsh:Genetics, 030104 developmental biology, chemistry, Phosphotransferases (Phosphomutases), Child, Preschool, symbols, Female, Hani ethnic minority, medicine.symptom, Novel variants, business, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::880d98d55980c7246e8338a85bdab762Test
http://link.springer.com/article/10.1186/s12881-019-0902-zTest -
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المؤلفون: Xin Tian, Bao-Hua Sang, Ti-Long Huang, Yu Lv, Yun-Bi Lin, Yue-Huang Yang, Chun-Yan Song, Na Li, Xian-Wen Zhang, Qing-Ling Lei, Chun-Hui Yang
المصدر: BMC Pediatrics, Vol 19, Iss 1, Pp 1-5 (2019)
BMC Pediatricsمصطلحات موضوعية: Hemolytic anemia, Ankyrins, Male, medicine.medical_specialty, Anemia, Case Report, Spherocytosis, Hereditary, Gene mutation, Gastroenterology, Hereditary spherocytosis, Frameshift mutation, ANK1, Internal medicine, medicine, Humans, Blood Transfusion, business.industry, Microcytosis, lcsh:RJ1-570, High-Throughput Nucleotide Sequencing, Infant, Hereditary spherocytosis- ANK1- frameshift mutation, lcsh:Pediatrics, medicine.disease, Pediatrics, Perinatology and Child Health, Mutation, Transfusion therapy, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d7128db5d4bf716c15de74828c5fea36Test
http://link.springer.com/article/10.1186/s12887-019-1436-4Test -
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المؤلفون: Chun-Yan Song, Xian-Wen Zhang, Ti-Long Huang, Yue-Huang Yang, Tian-Yao Zhang, Na Li, Chun-Hui Yang, Yu Lv, Yun-Bi Lin, Xin Tian, Bao-Hua Sang, Qing-Ling Lei
المصدر: Frontiers in Pediatrics, Vol 8 (2020)
Frontiers in Pediatricsمصطلحات موضوعية: thalassemia, Yunnan province, China, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Thalassemia, 030204 cardiovascular system & hematology, Gene mutation, Pediatrics, 03 medical and health sciences, 0302 clinical medicine, children, hemic and lymphatic diseases, 030225 pediatrics, Internal medicine, Genotype, Rare mutations, medicine, Hemoglobin H Disease, Original Research, Reverse dot blot, business.industry, Gene carrier, lcsh:RJ1-570, Genetic disorder, lcsh:Pediatrics, medicine.disease, gene mutation spectrum, Pediatrics, Perinatology and Child Health, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aa1765414ced0e0509b9ba58f76efb11Test
https://doi.org/10.3389/fped.2020.00159Test -
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