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المؤلفون: Chunxiu Gong, Chanjuan Hao, Wei Li, Xuyun Hu, Ruolan Guo, Yuanying Chen, Quan Wang, Lamei Chen, Jun Guo
المصدر: Gene. 768:145310
مصطلحات موضوعية: 0301 basic medicine, China, Adolescent, DNA Copy Number Variations, Hyperlipidemias, Disease, Biology, Bioinformatics, Polymorphism, Single Nucleotide, Coronary artery disease, 03 medical and health sciences, Lipoprotein lipase deficiency, 0302 clinical medicine, Chlorocebus aethiops, Exome Sequencing, Hyperlipidemia, Genetics, medicine, Animals, Humans, Copy-number variation, Child, Exome sequencing, Incidence (epidemiology), Infant, Newborn, High-Throughput Nucleotide Sequencing, Infant, General Medicine, medicine.disease, Early Diagnosis, 030104 developmental biology, Child, Preschool, 030220 oncology & carcinogenesis, COS Cells, Female, Sitosterolemia
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::63bb1913327c901d7476bbfeec21bb07Test
https://doi.org/10.1016/jTest.gene .2020.145310 -
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المؤلفون: Chen Chen, Lijuan Zhao, Ying Peng, Desheng Liang, Lingqian Wu, Guizhi Tang, Yanghui Zhang, Qinying Cao, Ruolan Guo, Yan Xia, Jiazhen Chang, Ruiyu Ma, Ting Bai, Libin Mei
المصدر: Gene. 569(1)
مصطلحات موضوعية: Proband, Adult, Male, congenital, hereditary, and neonatal diseases and abnormalities, DNA Copy Number Variations, Chromosomes, Human, Pair 22, Developmental Disabilities, Biology, Polymorphism, Single Nucleotide, Cytogenetics, Hearing disability, Seizures, Gene duplication, Chromosome Duplication, Genetics, medicine, DiGeorge Syndrome, Humans, Abnormalities, Multiple, In Situ Hybridization, Fluorescence, Epilepsy, Growth retardation, medicine.diagnostic_test, Pachygyria, General Medicine, medicine.disease, Hypotonia, Child, Preschool, Muscle Hypotonia, Female, medicine.symptom, Lissencephaly, SNP array, Fluorescence in situ hybridization
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aee616536620294d6177daf5ea6883b0Test
https://pubmed.ncbi.nlm.nih.gov/26099517Test