التفاصيل البيبلوغرافية
| العنوان: |
Diagnosis of biotin-thiamine-responsive basal ganglia disease by whole-exome sequencing in a family with Leigh's syndrome |
| المؤلفون: |
Christophe Rousselle, Gaetan Lesca, Pierre-Marie Gonnaud, Audrey Labalme, Nicolas Chatron, Perrine Devic, Damien Sanlaville |
| المصدر: |
European Journal of Paediatric Neurology. 21:e175-e176 |
| بيانات النشر: |
Elsevier BV, 2017. |
| سنة النشر: |
2017 |
| مصطلحات موضوعية: |
S syndrome, Biotin-thiamine-responsive basal ganglia disease, Pediatrics, Perinatology and Child Health, Neurology (clinical), General Medicine, Biology, Molecular biology, Exome sequencing |
| تدمد: |
1090-3798 |
| الوصول الحر: |
https://explore.openaire.eu/search/publication?articleId=doi_________::4bbdb570a6255d461d0297fa9da4a512Test
https://doi.org/10.1016/j.ejpn.2017.04.993Test |
| حقوق: |
CLOSED |
| رقم الانضمام: |
edsair.doi...........4bbdb570a6255d461d0297fa9da4a512 |
| قاعدة البيانات: |
OpenAIRE |
