| 000 | 02439 a2200733 4500 | ||
|---|---|---|---|
| 005 | 20250517053535.0 | ||
| 264 | 0 | _c20170726 | |
| 008 | 201707s 0 0 eng d | ||
| 022 | _a1476-5438 | ||
| 024 | 7 |
_a10.1038/ejhg.2015.202 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aNambot, Sophie | |
| 245 | 0 | 0 |
_a9q33.3q34.11 microdeletion: new contiguous gene syndrome encompassing STXBP1, LMX1B and ENG genes assessed using reverse phenotyping. _h[electronic resource] |
| 260 |
_bEuropean journal of human genetics : EJHG _c06 2016 |
||
| 300 |
_a830-7 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 | _aAdolescent |
| 650 | 0 | 4 | _aChild |
| 650 | 0 | 4 | _aChromosome Deletion |
| 650 | 0 | 4 |
_aChromosomes, Human, Pair 9 _xgenetics |
| 650 | 0 | 4 |
_aCraniofacial Abnormalities _xdiagnosis |
| 650 | 0 | 4 |
_aEndoglin _xgenetics |
| 650 | 0 | 4 |
_aEpilepsy _xdiagnosis |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aHaploinsufficiency |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 |
_aIntellectual Disability _xdiagnosis |
| 650 | 0 | 4 |
_aLIM-Homeodomain Proteins _xgenetics |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 |
_aMunc18 Proteins _xgenetics |
| 650 | 0 | 4 | _aPhenotype |
| 650 | 0 | 4 | _aSyndrome |
| 650 | 0 | 4 |
_aTranscription Factors _xgenetics |
| 700 | 1 | _aMasurel, Alice | |
| 700 | 1 | _aEl Chehadeh, Salima | |
| 700 | 1 | _aMosca-Boidron, Anne-Laure | |
| 700 | 1 | _aThauvin-Robinet, Christel | |
| 700 | 1 | _aLefebvre, Mathilde | |
| 700 | 1 | _aMarle, Nathalie | |
| 700 | 1 | _aThevenon, Julien | |
| 700 | 1 | _aPerez-Martin, Stéphanie | |
| 700 | 1 | _aDulieu, Véronique | |
| 700 | 1 | _aHuet, Frédéric | |
| 700 | 1 | _aPlessis, Ghislaine | |
| 700 | 1 | _aAndrieux, Joris | |
| 700 | 1 | _aJouk, Pierre-Simon | |
| 700 | 1 | _aBilly-Lopez, Gipsy | |
| 700 | 1 | _aCoutton, Charles | |
| 700 | 1 | _aMorice-Picard, Fanny | |
| 700 | 1 | _aDelrue, Marie-Ange | |
| 700 | 1 | _aHeron, Delphine | |
| 700 | 1 | _aRooryck, Caroline | |
| 700 | 1 | _aGoldenberg, Alice | |
| 700 | 1 | _aSaugier-Veber, Pascale | |
| 700 | 1 | _aJoly-Hélas, Géraldine | |
| 700 | 1 | _aCalenda, Patricia | |
| 700 | 1 | _aKuentz, Paul | |
| 700 | 1 | _aManouvrier-Hanu, Sylvie | |
| 700 | 1 | _aDupuis-Girod, Sophie | |
| 700 | 1 | _aCallier, Patrick | |
| 700 | 1 | _aFaivre, Laurence | |
| 773 | 0 |
_tEuropean journal of human genetics : EJHG _gvol. 24 _gno. 6 _gp. 830-7 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1038/ejhg.2015.202 _zAvailable from publisher's website |
| 999 |
_c25285381 _d25285381 |
||