| 000 | 01810 a2200505 4500 | ||
|---|---|---|---|
| 005 | 20250516163325.0 | ||
| 264 | 0 | _c20140317 | |
| 008 | 201403s 0 0 eng d | ||
| 022 | _a1096-7206 | ||
| 024 | 7 |
_a10.1016/j.ymgme.2013.07.013 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aVuillaume, Marie-Laure | |
| 245 | 0 | 0 |
_aExpanding the clinical phenotype at the 3q13.31 locus with a new case of microdeletion and first characterization of the reciprocal duplication. _h[electronic resource] |
| 260 |
_bMolecular genetics and metabolism _c |
||
| 300 |
_a90-7 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article | ||
| 650 | 0 | 4 | _aAdolescent |
| 650 | 0 | 4 |
_aCell Adhesion Molecules, Neuronal _xgenetics |
| 650 | 0 | 4 | _aChromosome Deletion |
| 650 | 0 | 4 |
_aChromosomes, Human, Pair 3 _xgenetics |
| 650 | 0 | 4 | _aComparative Genomic Hybridization |
| 650 | 0 | 4 |
_aDevelopmental Disabilities _xdiagnosis |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 |
_aGAP-43 Protein _xgenetics |
| 650 | 0 | 4 |
_aGPI-Linked Proteins _xgenetics |
| 650 | 0 | 4 | _aGene Deletion |
| 650 | 0 | 4 | _aGene Dosage |
| 650 | 0 | 4 | _aGenes, Duplicate |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aIn Situ Hybridization, Fluorescence |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 |
_aNerve Tissue Proteins _xgenetics |
| 650 | 0 | 4 |
_aObesity _xgenetics |
| 650 | 0 | 4 |
_aReceptors, Dopamine D3 _xgenetics |
| 650 | 0 | 4 |
_aTranscription Factors _xgenetics |
| 700 | 1 | _aDelrue, Marie-Ange | |
| 700 | 1 | _aNaudion, Sophie | |
| 700 | 1 | _aToutain, Jérôme | |
| 700 | 1 | _aFergelot, Patricia | |
| 700 | 1 | _aArveiler, Benoit | |
| 700 | 1 | _aLacombe, Didier | |
| 700 | 1 | _aRooryck, Caroline | |
| 773 | 0 |
_tMolecular genetics and metabolism _gvol. 110 _gno. 1-2 _gp. 90-7 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1016/j.ymgme.2013.07.013 _zAvailable from publisher's website |
| 999 |
_c22980203 _d22980203 |
||