| 000 | 02177 a2200673 4500 | ||
|---|---|---|---|
| 005 | 20250517135939.0 | ||
| 264 | 0 | _c20170807 | |
| 008 | 201708s 0 0 eng d | ||
| 022 | _a1476-5438 | ||
| 024 | 7 |
_a10.1038/ejhg.2016.204 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aQuartier, Angélique | |
| 245 | 0 | 0 |
_aIntragenic FMR1 disease-causing variants: a significant mutational mechanism leading to Fragile-X syndrome. _h[electronic resource] |
| 260 |
_bEuropean journal of human genetics : EJHG _c04 2017 |
||
| 300 |
_a423-431 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article; Meta-Analysis; Systematic Review | ||
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 |
_aFragile X Mental Retardation Protein _xgenetics |
| 650 | 0 | 4 |
_aFragile X Syndrome _xdiagnosis |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 | _aMiddle Aged |
| 650 | 0 | 4 | _aMutation |
| 650 | 0 | 4 | _aPolymorphism, Single Nucleotide |
| 650 | 0 | 4 | _aRNA Splicing |
| 650 | 0 | 4 | _aSiblings |
| 700 | 1 | _aPoquet, Hélène | |
| 700 | 1 | _aGilbert-Dussardier, Brigitte | |
| 700 | 1 | _aRossi, Massimiliano | |
| 700 | 1 | _aCasteleyn, Anne-Sophie | |
| 700 | 1 | _aPortes, Vincent des | |
| 700 | 1 | _aFeger, Claire | |
| 700 | 1 | _aNourisson, Elsa | |
| 700 | 1 | _aKuentz, Paul | |
| 700 | 1 | _aRedin, Claire | |
| 700 | 1 | _aThevenon, Julien | |
| 700 | 1 | _aMosca-Boidron, Anne-Laure | |
| 700 | 1 | _aCallier, Patrick | |
| 700 | 1 | _aMuller, Jean | |
| 700 | 1 | _aLesca, Gaetan | |
| 700 | 1 | _aHuet, Frédéric | |
| 700 | 1 | _aGeoffroy, Véronique | |
| 700 | 1 | _aEl Chehadeh, Salima | |
| 700 | 1 | _aJung, Matthieu | |
| 700 | 1 | _aTrojak, Benoit | |
| 700 | 1 | _aLe Gras, Stéphanie | |
| 700 | 1 | _aLehalle, Daphné | |
| 700 | 1 | _aJost, Bernard | |
| 700 | 1 | _aMaury, Stéphanie | |
| 700 | 1 | _aMasurel, Alice | |
| 700 | 1 | _aEdery, Patrick | |
| 700 | 1 | _aThauvin-Robinet, Christel | |
| 700 | 1 | _aGérard, Bénédicte | |
| 700 | 1 | _aMandel, Jean-Louis | |
| 700 | 1 | _aFaivre, Laurence | |
| 700 | 1 | _aPiton, Amélie | |
| 773 | 0 |
_tEuropean journal of human genetics : EJHG _gvol. 25 _gno. 4 _gp. 423-431 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1038/ejhg.2016.204 _zAvailable from publisher's website |
| 999 |
_c26861147 _d26861147 |
||