| 000 | 02264 a2200613 4500 | ||
|---|---|---|---|
| 005 | 20250517183224.0 | ||
| 264 | 0 | _c20181017 | |
| 008 | 201810s 0 0 eng d | ||
| 022 | _a1530-0366 | ||
| 024 | 7 |
_a10.1038/gim.2017.162 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aNambot, Sophie | |
| 245 | 0 | 0 |
_aClinical whole-exome sequencing for the diagnosis of rare disorders with congenital anomalies and/or intellectual disability: substantial interest of prospective annual reanalysis. _h[electronic resource] |
| 260 |
_bGenetics in medicine : official journal of the American College of Medical Genetics _c06 2018 |
||
| 300 |
_a645-654 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 |
_aCongenital Abnormalities _xgenetics |
| 650 | 0 | 4 | _aDatabases, Genetic |
| 650 | 0 | 4 | _aExome |
| 650 | 0 | 4 |
_aGenetic Testing _xmethods |
| 650 | 0 | 4 |
_aHigh-Throughput Nucleotide Sequencing _xmethods |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 |
_aIntellectual Disability _xgenetics |
| 650 | 0 | 4 |
_aRare Diseases _xgenetics |
| 650 | 0 | 4 | _aRetrospective Studies |
| 650 | 0 | 4 |
_aSequence Analysis, DNA _xmethods |
| 650 | 0 | 4 |
_aExome Sequencing _xmethods |
| 700 | 1 | _aThevenon, Julien | |
| 700 | 1 | _aKuentz, Paul | |
| 700 | 1 | _aDuffourd, Yannis | |
| 700 | 1 | _aTisserant, Emilie | |
| 700 | 1 | _aBruel, Ange-Line | |
| 700 | 1 | _aMosca-Boidron, Anne-Laure | |
| 700 | 1 | _aMasurel-Paulet, Alice | |
| 700 | 1 | _aLehalle, Daphné | |
| 700 | 1 | _aJean-Marçais, Nolwenn | |
| 700 | 1 | _aLefebvre, Mathilde | |
| 700 | 1 | _aVabres, Pierre | |
| 700 | 1 | _aEl Chehadeh-Djebbar, Salima | |
| 700 | 1 | _aPhilippe, Christophe | |
| 700 | 1 | _aTran Mau-Them, Frederic | |
| 700 | 1 | _aSt-Onge, Judith | |
| 700 | 1 | _aJouan, Thibaud | |
| 700 | 1 | _aChevarin, Martin | |
| 700 | 1 | _aPoé, Charlotte | |
| 700 | 1 | _aCarmignac, Virginie | |
| 700 | 1 | _aVitobello, Antonio | |
| 700 | 1 | _aCallier, Patrick | |
| 700 | 1 | _aRivière, Jean-Baptiste | |
| 700 | 1 | _aFaivre, Laurence | |
| 700 | 1 | _aThauvin-Robinet, Christel | |
| 773 | 0 |
_tGenetics in medicine : official journal of the American College of Medical Genetics _gvol. 20 _gno. 6 _gp. 645-654 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1038/gim.2017.162 _zAvailable from publisher's website |
| 999 |
_c27746973 _d27746973 |
||