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1دورية أكاديمية
المؤلفون: Shangyu Wang, Jinglin Chen, Xiaoqi Zhu, Tingting Huang, Haifeng Xu, Guohuan Ying, Hao Qian, Wenxin Lin, Yiehen Tung, Kaleem Ullah Khan, Hu Guo, Guo Zheng, Haiying Lu, Gang Zhang
المصدر: BMC Medical Genomics, Vol 16, Iss 1, Pp 1-10 (2023)
مصطلحات موضوعية: Hyperammonemia, CPS1 gene variant, Emerging mutations, Urea cycle disorder/carbamoyl phosphate synthase I deficiency, 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: Yiehen Tung, Haiying Lu, Wenxin Lin, Tingting Huang, Samuel Kim, Guo Hu, Gang Zhang, Guo Zheng
المصدر: Frontiers in Genetics, Vol 12 (2021)
مصطلحات موضوعية: 1q44 microdeletion syndrome, copy number variation, whole exon sequencing, seizure, developmental delay, Genetics, QH426-470
وصف الملف: electronic resource
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3
المؤلفون: Tingting Huang, Guo Hu, Haiying Lu, Wenxin Lin, Guo Zheng, Yiehen Tung, Gang Zhang, Samuel Kim
المصدر: Frontiers in Genetics, Vol 12 (2021)
Frontiers in Geneticsمصطلحات موضوعية: 0301 basic medicine, genetic structures, seizure, Case Report, 030105 genetics & heredity, QH426-470, Bioinformatics, Genetic analysis, 03 medical and health sciences, Intellectual disability, medicine, Genetics, Medical history, Copy-number variation, Genetics (clinical), business.industry, Genetic heterogeneity, whole exon sequencing, copy number variation, Chromosome, Microdeletion syndrome, medicine.disease, developmental delay, 030104 developmental biology, Molecular Medicine, Abnormality, business, 1q44 microdeletion syndrome
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::55946db516919c260239fa88479bc909
https://www.frontiersin.org/articles/10.3389/fgene.2021.648351/full