دورية أكاديمية
Developmental epileptic encephalopathy with hypomyelination and brain atrophy associated with PTPN23 variants affecting the assembly of UsnRNPs
| العنوان: | Developmental epileptic encephalopathy with hypomyelination and brain atrophy associated with PTPN23 variants affecting the assembly of UsnRNPs |
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| المؤلفون: | Smigiel, Robert, Landsberg, Gerd, Schilling, Maximilian, Rydzanicz, Małgorzata, Pollak, Agnieszka, Walczak, Anna, Stodolak, Anna, Stawinski, PiotrAff3, Aff4, Mierzewska, Hanna, Sasiadek, Maria M., Gruss, Oliver J.Aff2, Ploski, RafalAff3 |
| المصدر: | European Journal of Human Genetics. 26(10):1502-1511 |
| قاعدة البيانات: | Springer Nature Journals |
Find this article in full text from Springer Verlag. 
Full Text Finder | تدمد: | 10184813 14765438 |
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| DOI: | 10.1038/s41431-018-0179-2 |