000 | 02172 a2200649 4500 | ||
---|---|---|---|
005 | 20250516065405.0 | ||
264 | 0 | _c20120613 | |
008 | 201206s 0 0 eng d | ||
022 | _a1476-5438 | ||
024 | 7 |
_a10.1038/ejhg.2011.217 _2doi |
|
040 |
_aNLM _beng _cNLM |
||
100 | 1 | _aDelphin, Nathalie | |
245 | 0 | 0 |
_aIntellectual disability associated with retinal dystrophy in the Xp11.3 deletion syndrome: ZNF674 on trial. Guilty or innocent? _h[electronic resource] |
260 |
_bEuropean journal of human genetics : EJHG _cMar 2012 |
||
300 |
_a352-6 p. _bdigital |
||
500 | _aPublication Type: Journal Article; Research Support, Non-U.S. Gov't | ||
650 | 0 | 4 | _aAdolescent |
650 | 0 | 4 | _aAdult |
650 | 0 | 4 | _aChild |
650 | 0 | 4 | _aChild, Preschool |
650 | 0 | 4 | _aChromosome Deletion |
650 | 0 | 4 | _aChromosomes, Human, X |
650 | 0 | 4 | _aComparative Genomic Hybridization |
650 | 0 | 4 |
_aEye Proteins _xgenetics |
650 | 0 | 4 | _aGTP-Binding Proteins |
650 | 0 | 4 | _aGene Deletion |
650 | 0 | 4 |
_aGenetic Diseases, X-Linked _xcomplications |
650 | 0 | 4 | _aGenetic Linkage |
650 | 0 | 4 | _aHaplotypes |
650 | 0 | 4 | _aHumans |
650 | 0 | 4 | _aInfant |
650 | 0 | 4 |
_aIntellectual Disability _xcomplications |
650 | 0 | 4 |
_aIntracellular Signaling Peptides and Proteins _xgenetics |
650 | 0 | 4 |
_aKruppel-Like Transcription Factors _xgenetics |
650 | 0 | 4 | _aMale |
650 | 0 | 4 |
_aMembrane Proteins _xgenetics |
650 | 0 | 4 | _aMiddle Aged |
650 | 0 | 4 | _aPedigree |
650 | 0 | 4 |
_aRetinal Dystrophies _xcomplications |
650 | 0 | 4 | _aSyndrome |
650 | 0 | 4 | _aYoung Adult |
700 | 1 | _aHanein, Sylvain | |
700 | 1 | _aTaie, Lucas Fares | |
700 | 1 | _aZanlonghi, Xavier | |
700 | 1 | _aBonneau, Dominique | |
700 | 1 | _aMoisan, Jean-Paul | |
700 | 1 | _aBoyle, Christine | |
700 | 1 | _aNitschke, Patrick | |
700 | 1 | _aPruvost, Solenn | |
700 | 1 | _aBonnefont, Jean-Paul | |
700 | 1 | _aMunnich, Arnold | |
700 | 1 | _aRoche, Olivier | |
700 | 1 | _aKaplan, Josseline | |
700 | 1 | _aRozet, Jean-Michel | |
773 | 0 |
_tEuropean journal of human genetics : EJHG _gvol. 20 _gno. 3 _gp. 352-6 |
|
856 | 4 | 0 |
_uhttps://doi.org/10.1038/ejhg.2011.217 _zAvailable from publisher's website |
999 |
_c21352584 _d21352584 |