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1دورية أكاديمية
المؤلفون: Qianwen Zhang, Ruen Yao, Qun Li, Xin Li, Biyun Feng, Guoying Chang, Jian Wang, Xiumin Wang
المصدر: BMC Medical Genomics, Vol 14, Iss 1, Pp 1-7 (2021)
مصطلحات موضوعية: Type II collagenopathies, COL2A1 gene, Whole-exome sequencing, Novel variant, Rare complex syndrome, Internal medicine, RC31-1245, Genetics, QH426-470
وصف الملف: electronic resource
Relation: https://doaj.org/toc/1755-8794
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2دورية أكاديمية
المؤلفون: Zhang, QianwenAff1, Aff3, Yao, Ruen, Li, Qun, Li, Xin, Feng, Biyun, Chang, Guoying, Wang, Jian, Wang, XiuminAff1, Aff3
المصدر: BMC Medical Genomics. 14(1)
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3
المؤلفون: Qun Li, Jian Wang, Qianwen Zhang, Guoying Chang, Xiumin Wang, Ruen Yao, Xin Li, Biyun Feng
المصدر: BMC Medical Genomics
BMC Medical Genomics, Vol 14, Iss 1, Pp 1-7 (2021)مصطلحات موضوعية: Type II collagenopathies, Case Report, QH426-470, Biology, Osteochondrodysplasias, symbols.namesake, Genotype, Genetics, medicine, Missense mutation, Internal medicine, Genetics (clinical), Exome sequencing, Sanger sequencing, Osteochondritis, COL2A1 gene, Autosomal dominant trait, medicine.disease, RC31-1245, Novel variant, Human genetics, Rare complex syndrome, Dysplasia, Whole-exome sequencing, symbols
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4
المؤلفون: Yihua, Ge, Niu, Li, Zhigang, Wang, Jian, Wang, Haiqing, Cai
المصدر: Experimental and Therapeutic Medicine
مصطلحات موضوعية: Aarskog-Scott syndrome, Articles, whole-exome sequencing, FGD1 gene, rare complex syndrome, novel variant
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5دورية أكاديمية
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