دورية أكاديمية
P183: Genome sequencing increases the diagnostic yield in exome-negative individuals with rare genetic disorders
| العنوان: | P183: Genome sequencing increases the diagnostic yield in exome-negative individuals with rare genetic disorders |
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| المؤلفون: | Swetha Ramadesikan, Caitlyn Colwell, Mohammad Marhabaie, Leeran Dublin-Ryan, Iftekhar Showpnil, Umamaheswaran Gurusamy, Jesse Hunter, Allison Daley, Elizabeth Varga, Marco Leung, Rolf Stottmann, Bimal Chaudhari, Scott Hickey, Peter White, Daniel Koboldt, Richard Wilson |
| المصدر: | Genetics in Medicine Open, Vol 2, Iss , Pp 101080- (2024) |
| بيانات النشر: | Elsevier, 2024. |
| سنة النشر: | 2024 |
| المجموعة: | LCC:Genetics LCC:Medicine |
| مصطلحات موضوعية: | Genetics, QH426-470, Medicine |
| نوع الوثيقة: | article |
| وصف الملف: | electronic resource |
| اللغة: | English |
| تدمد: | 2949-7744 |
| Relation: | http://www.sciencedirect.com/science/article/pii/S2949774424002267; https://doaj.org/toc/2949-7744 |
| DOI: | 10.1016/j.gimo.2024.101080 |
| URL الوصول: | https://doaj.org/article/fad6429f01c340d3a5b62d38ac73cd53 |
| رقم الأكسشن: | edsdoj.fad6429f01c340d3a5b62d38ac73cd53 |
| قاعدة البيانات: | Directory of Open Access Journals |
Full Text via ClinicalKey 
Full Text Finder | تدمد: | 29497744 |
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| DOI: | 10.1016/j.gimo.2024.101080 |