| Title: |
Unravelling structural chromosomal rearrangements by whole genome sequencing: results of the ANI project, a French collaborative study including 55 patients with intellectual disability and/or congenital malformations |
| Authors: |
Schluth-Bolard, C.; Diguet, F.; Rollat-Farnier, P. A.; Amiel, J.; Belaud-Rotureau, M. A.; Benzacken, B.; Callier, P.; Chatron, N.; Collignon, P.; Demeer, Bénédicte; Doco-Fenzy, M.; Faivre, L.; Gilbert-Dussardier, B.; Guerrot, A. M.; Jaillard, S.; Keren, B.; Kremer, V.; Lacombe, D.; Lebbar, A.; Le Caignec, C.; Lespinasse, J.; Malan, V.; Mathieu-Dramard, M.; Missirian, C.; Moncla, A.; Odent, S.; Pebrel-Richard, C.; Paquis, V.; Portnoi, M. F.; Puechberty, J.; Rooryck-Thambo, C.; Satre, V.; Tabet, A. C.; Touraine, R.; Toutain, A.; Vekemans, M.; Verloes, A.; Edery, P.; Sanlaville, D. |
| Contributors: |
CHirurgie, IMagerie et REgénération tissulaire de l’extrémité céphalique - Caractérisation morphologique et fonctionnelle - UR UPJV 7516 (CHIMERE); Université de Picardie Jules Verne (UPJV) |
| Source: |
ISSN: 1018-4813. |
| Publisher Information: |
CCSD; Nature Publishing Group |
| Publication Year: |
2018 |
| Subject Terms: |
[SDV]Life Sciences [q-bio] |
| Description: |
50th European-Society-of-Human-Genetics (ESHG) Conference, Copenhagen, DENMARK, MAY 27-30, 2017 ; International audience |
| Document Type: |
article in journal/newspaper |
| Language: |
English |
| Availability: |
https://u-picardie.hal.science/hal-03600552 |
| Accession Number: |
edsbas.F70120CD |
| Database: |
BASE |