التفاصيل البيبلوغرافية
| العنوان: |
TNPO2 variants associate with human developmental delays, neurologic deficits, and dysmorphic features and alter TNPO2 activity in Drosophila |
| المؤلفون: |
Goodman, Lindsey D., Cope, Heidi, Nil, Zelha, Ravenscroft, Thomas A., Charng, W.L., Lu, Shenzhao, Pfundt, R.P., Koolen, D.A., Haaxma, C.A., Wevers, M.R., Bellen, Hugo J., Tan, Queenie K-G |
| المصدر: |
American Journal of Human Genetics, 108, 9, pp. 1669-1691 |
| سنة النشر: |
2021 |
| المجموعة: |
Radboud University: DSpace |
| مصطلحات موضوعية: |
All institutes and research themes of the Radboud University Medical Center, Radboudumc 3: Disorders of movement DCMN: Donders Center for Medical Neuroscience, Radboudumc 7: Neurodevelopmental disorders DCMN: Donders Center for Medical Neuroscience, Radboudumc 9: Rare cancers RIHS: Radboud Institute for Health Sciences |
| الوصف: |
Contains fulltext : 237195.pdf (Publisher’s version ) (Closed access) |
| نوع الوثيقة: |
article in journal/newspaper |
| اللغة: |
unknown |
| Relation: |
https://repository.ubn.ru.nl/handle/2066/237195; http://dx.doi.org/10.1016/j.ajhg.2021.06.019 |
| DOI: |
10.1016/j.ajhg.2021.06.019 |
| الاتاحة: |
https://repository.ubn.ru.nl/handle/2066/237195
https://doi.org/10.1016/j.ajhg.2021.06.019 |
| رقم الانضمام: |
edsbas.D2DE645A |
| قاعدة البيانات: |
BASE |