| Title: |
Experience of a multidisciplinary task force with exome sequencing for Mendelian disorders |
| Authors: |
Fokstuen, S.; Makrythanasis, P.; Hammar, E.; Guipponi, M.; Ranza, E.; Varvagiannis, K.; Santoni, F. A.; Albarca-Aguilera, M.; Poleggi, M. E.; Couchepin, F.; Brockmann, C.; Mauron, A.; Hurst, S. A.; Moret, C.; Gehrig, C.; Vannier, A.; Bevillard, J.; Araud, T.; Gimelli, S.; Stathaki, E.; Paoloni-Giacobino, A.; Bottani, A.; Sloan-Béna, F.; Sizonenko, L. D’Amato; Mostafavi, M.; Hamamy, H.; Nouspikel, T.; Blouin, J. L.; Antonarakis, S. E. |
| Source: |
Human Genomics ; volume 10, issue 1 ; ISSN 1479-7364 |
| Publisher Information: |
Springer Science and Business Media LLC |
| Publication Year: |
2016 |
| Document Type: |
article in journal/newspaper |
| Language: |
English |
| DOI: |
10.1186/s40246-016-0080-4 |
| Availability: |
https://doi.org/10.1186/s40246-016-0080-4; http://link.springer.com/content/pdf/10.1186/s40246-016-0080-4 |
| Accession Number: |
edsbas.912CE113 |
| Database: |
BASE |