دورية أكاديمية
P594: A 3.9 Mb triplication within 11p14.1p13 containing ELP4 and PAX6 in a patient with congenital nystagmus and mild speech delay
| العنوان: | P594: A 3.9 Mb triplication within 11p14.1p13 containing ELP4 and PAX6 in a patient with congenital nystagmus and mild speech delay |
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| المؤلفون: | Lei Zhang, Janda Jenkins, Jennifer Roberts, Elena Repnikova, Shivarajan Amudhavalli, Marla Kennard, Mary Champion, John Herriges |
| المصدر: | Genetics in Medicine Open, Vol 1, Iss 1, Pp 100641- (2023) |
| بيانات النشر: | Elsevier, 2023. |
| سنة النشر: | 2023 |
| 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/S2949774423006416; https://doaj.org/toc/2949-7744 |
| DOI: | 10.1016/j.gimo.2023.100641 |
| URL الوصول: | https://doaj.org/article/8a401a19570c4ff3821272530c4ea709 |
| رقم الأكسشن: | edsdoj.8a401a19570c4ff3821272530c4ea709 |
| 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.2023.100641 |