Free Access
| Issue |
Med Sci (Paris)
Volume 33, Number 12, Décembre 2017
|
|
|---|---|---|
| Page(s) | 1045 - 1047 | |
| Section | Nouvelles | |
| DOI | https://doi.org/10.1051/medsci/20173312009 | |
| Published online | 20 December 2017 | |
- Stoppa-Lyonnet D, Houdayer C. Séquençage de nouvelle génération en génétique médicale : du génotype au phénotype, un défi majeur. Med Sci (Paris) 2012 ; 28 : 123–124. [CrossRef] [EDP Sciences] [PubMed] [Google Scholar]
- Ng SB, Buckingham KJ, Lee C, et al. Exome sequencing identifies the cause of a mendelian disorder. Nat Genet 2010 ; 42 : 30–35. [Google Scholar]
- Audrey Criqui A, Baulande S. Le séquençage de l’exome au secours des maladies génétiques. Med Sci (Paris) 2010; 26 : 452–454. [CrossRef] [EDP Sciences] [PubMed] [Google Scholar]
- Kremer LS, Bader DM, Mertes C, et al. Genetic diagnosis of Mendelian disorders via RNA sequencing. Nat Commun 2017 ; 8 : 15824. [CrossRef] [PubMed] [Google Scholar]
- Alston CL, Rocha MC, Lax NZ, et al. The genetics and pathology of mitochondrial disease. J Pathol 2017 ; 241 : 236–250. [CrossRef] [PubMed] [Google Scholar]
- De la Grange P. Altérations de l’épissage et maladies rares. Med Sci (Paris) 2016 ; 32 : 1111–1119. [CrossRef] [EDP Sciences] [PubMed] [Google Scholar]
Current usage metrics show cumulative count of Article Views (full-text article views including HTML views, PDF and ePub downloads, according to the available data) and Abstracts Views on Vision4Press platform.
Data correspond to usage on the plateform after 2015. The current usage metrics is available 48-96 hours after online publication and is updated daily on week days.
Initial download of the metrics may take a while.