Academic Journal
De novo FZR1 loss-of-function variants cause developmental and epileptic encephalopathies
| العنوان: | De novo FZR1 loss-of-function variants cause developmental and epileptic encephalopathies |
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| المؤلفون: | Manivannan S. N., Roovers J., Smal N., Myers C. T., Turkdogan D., Roelens F., Kanca O., Chung H. L., Scholz T., Hermann K., Bierhals T., Caglayan H. S., Stamberger H., Craiu D., Davila C., Helbig I., Guerrini R., Lehesjoki A. E., Marini C., Muhle H., Møller R. S., Neubauer B., Pal D., Sterbova K., Striano P., Talvik T., Von Spiczak S., Weber Y., Hoffman-Zacharska D., Mefford H., De Jonghe P., Yamamoto S., Weckhuysen S., Bellen H. J. |
| المساهمون: | Manivannan, S. N., Roovers, J., Smal, N., Myers, C. T., Turkdogan, D., Roelens, F., Kanca, O., Chung, H. L., Scholz, T., Hermann, K., Bierhals, T., Caglayan, H. S., Stamberger, H., Craiu, D., Davila, C., Helbig, I., Guerrini, R., Lehesjoki, A. E., Marini, C., Muhle, H., Møller, R. S., Neubauer, B., Pal, D., Sterbova, K., Striano, P., Talvik, T., Von Spiczak, S., Weber, Y., Hoffman-Zacharska, D., Mefford, H., De Jonghe, P., Yamamoto, S., Weckhuysen, S., Bellen, H. J. |
| سنة النشر: | 2022 |
| المجموعة: | Università degli Studi di Genova: CINECA IRIS |
| نوع الوثيقة: | article in journal/newspaper |
| وصف الملف: | STAMPA |
| اللغة: | English |
| Relation: | info:eu-repo/semantics/altIdentifier/wos/WOS:000788202600001; volume:145; firstpage:1684; lastpage:1697; numberofpages:14; journal:BRAIN; https://hdl.handle.net/11567/1142057; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85126802575 |
| DOI: | 10.1093/brain/awab409 |
| الاتاحة: | https://hdl.handle.net/11567/1142057 https://doi.org/10.1093/brain/awab409 |
| رقم الانضمام: | edsbas.83AEA489 |
| قاعدة البيانات: | BASE |
| DOI: | 10.1093/brain/awab409 |
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