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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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2
المؤلفون: Xiao-hong Yang, Yi-shuang Xiao, Zhen Zhang, He Wenji, Hongchao Jiang, Jing Ma, Li Tan, Ru Shen, Ren-qiu Li, Huaiyu Gu
المصدر: BMC Medical Genetics
مصطلحات موضوعية: Adult, Male, Oncology, Proband, China, medicine.medical_specialty, Retinal Neoplasms, Ubiquitin-Protein Ligases, Gene Expression, Disease, Malignancy, medicine.disease_cause, DNA sequencing, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, Ethnicity, Genetics, medicine, Humans, Genetic Predisposition to Disease, Genetic Testing, Genetics (clinical), Genetic testing, Mutation, Genetic forms, Base Sequence, medicine.diagnostic_test, business.industry, Retinoblastoma, Infant, Newborn, Computational Biology, High-Throughput Nucleotide Sequencing, Infant, medicine.disease, eye diseases, Human genetics, Retinoblastoma Binding Proteins, Case-Control Studies, Child, Preschool, 030220 oncology & carcinogenesis, 030221 ophthalmology & optometry, Female, business, Targeted next generation sequencing, Mutations, Research Article
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2506c361dcadc0b6f4d78e0212a526ecTest
https://doi.org/10.1186/s12881-020-01150-7Test