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1دورية أكاديمية
المؤلفون: Qi Ni, Meiling Tang, Xiang Chen, Yulan Lu, Bingbing Wu, Huijun Wang, Wenhao Zhou, Xinran Dong
المصدر: Frontiers in Genetics, Vol 15 (2024)
مصطلحات موضوعية: fructose-1, 6-bisphosphatase deficiency, prevalence estimation, curation for pathogenic variants, newborn screening, allele frequency comparison, Genetics, QH426-470
وصف الملف: electronic resource
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2دورية أكاديمية
المؤلفون: Meiling Tang, Xiang Chen, Qi Ni, Yulan Lu, Bingbing Wu, Huijun Wang, Zhaoqing Yin, Wenhao Zhou, Xinran Dong
المصدر: Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-10 (2022)
مصطلحات موضوعية: Hereditary fructose intolerance, Prevalence estimation, Curation for pathogenic variants, Newborn screening, Allele frequency comparison, Medicine
وصف الملف: electronic resource
Relation: https://doaj.org/toc/1750-1172
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3دورية أكاديمية
المؤلفون: Ni, QiAff1, Aff2, Chen, XiangAff2, Aff3, Zhang, Ping, Yang, Lin, Lu, Yulan, Xiao, Feifan, Wu, Bingbing, Wang, Huijun, Zhou, WenhaoAff1, Aff2, Aff3, IDs13023022022799_cor9, Dong, XinranAff1, Aff2, IDs13023022022799_cor10
المصدر: Orphanet Journal of Rare Diseases. 17(1)
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4دورية أكاديمية
المؤلفون: Tang, Meiling, Chen, Xiang, Ni, Qi, Lu, Yulan, Wu, Bingbing, Wang, Huijun, Yin, Zhaoqing, Zhou, WenhaoAff2, IDs13023022024873_cor8, Dong, XinranAff1, IDs13023022024873_cor9
المصدر: Orphanet Journal of Rare Diseases. 17(1)
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5دورية أكاديمية
المؤلفون: Qi Ni, Xiang Chen, Ping Zhang, Lin Yang, Yulan Lu, Feifan Xiao, Bingbing Wu, Huijun Wang, Wenhao Zhou, Xinran Dong
المصدر: Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-11 (2022)
مصطلحات موضوعية: Cystic fibrosis, Screening panel, Prevalence estimation, Allele frequency comparison, Haplotype construction and comparison, Medicine
وصف الملف: electronic resource
Relation: https://doaj.org/toc/1750-1172