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المؤلفون: Hsiao-Mei Lu, Jefferey Chen, Deepali N. Shinde, David J. Salvador, Kelly D. Farwell, Soren Fischbach, Sha Tang
المصدر: Journal of Genetics and Genome Research. 2
مصطلحات موضوعية: Genetics, Novel gene, Diagnostic methods, In patient, Biology, Indel, Exome, Exome sequencing, DNA sequencing, Sequence (medicine)
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::cc169b21a89f47835a4cf7f052549e76
https://doi.org/10.23937/2378-3648/1410018 -
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المؤلفون: Zöe Powis, Charles Dunlop, Sha Tang, Hong Lu, Elizabeth C. Chao, Xiang Li, Hsiao-Mei Lu, David Ruble, Aaron Elliott, Dima El-Khechen, Monica Lao, Cameron Mroske, Kelly D. Farwell, Melissa C. Parra, Stephanie K. Gandomi, Jennifer Wen, Brigette Tippin Davis, Soren Fischbach, Ruth M. Baxter, Ira Lu, David J. Salvador, Layla Shahmirzadi, Shela Lee, Wenqi Zeng
المصدر: Europe PubMed Central
مصطلحات موضوعية: Adult, Male, Proband, Pediatrics, medicine.medical_specialty, Heredity, Ataxia, Sequence analysis, Disease, medicine.disease_cause, Cohort Studies, Databases, Genetic, Humans, Medicine, Exome, Genetics (clinical), Exome sequencing, business.industry, Sequence Analysis, DNA, Molecular Diagnostic Techniques, Female, medicine.symptom, business, Cohort study
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dd8d430205e23f2f7db3723703b76cf4
http://europepmc.org/abstract/med/25356970