000 | 01912 a2200541 4500 | ||
---|---|---|---|
005 | 20250516212522.0 | ||
264 | 0 | _c20150331 | |
008 | 201503s 0 0 eng d | ||
022 | _a1552-4833 | ||
024 | 7 |
_a10.1002/ajmg.a.36602 _2doi |
|
040 |
_aNLM _beng _cNLM |
||
100 | 1 | _aMignon-Ravix, Cécile | |
245 | 0 | 0 |
_aIntragenic rearrangements in X-linked intellectual deficiency: results of a-CGH in a series of 54 patients and identification of TRPC5 and KLHL15 as potential XLID genes. _h[electronic resource] |
260 |
_bAmerican journal of medical genetics. Part A _cAug 2014 |
||
300 |
_a1991-7 p. _bdigital |
||
500 | _aPublication Type: Journal Article; Research Support, Non-U.S. Gov't | ||
650 | 0 | 4 | _aChild, Preschool |
650 | 0 | 4 | _aChromosome Mapping |
650 | 0 | 4 | _aChromosomes, Human, X |
650 | 0 | 4 | _aComparative Genomic Hybridization |
650 | 0 | 4 | _aDNA Copy Number Variations |
650 | 0 | 4 | _aGene Deletion |
650 | 0 | 4 | _aGenes, X-Linked |
650 | 0 | 4 | _aGenetic Loci |
650 | 0 | 4 | _aGenome-Wide Association Study |
650 | 0 | 4 | _aHumans |
650 | 0 | 4 |
_aIntellectual Disability _xdiagnosis |
650 | 0 | 4 | _aMale |
650 | 0 | 4 |
_aMicrofilament Proteins _xgenetics |
650 | 0 | 4 |
_aTRPC Cation Channels _xgenetics |
650 | 0 | 4 | _aTranslocation, Genetic |
650 | 0 | 4 | _aX Chromosome Inactivation |
700 | 1 | _aCacciagli, Pierre | |
700 | 1 | _aChoucair, Nancy | |
700 | 1 | _aPopovici, Cornel | |
700 | 1 | _aMissirian, Chantal | |
700 | 1 | _aMilh, Mathieu | |
700 | 1 | _aMégarbané, André | |
700 | 1 | _aBusa, Tiffany | |
700 | 1 | _aJulia, Sophie | |
700 | 1 | _aGirard, Nadine | |
700 | 1 | _aBadens, Catherine | |
700 | 1 | _aSigaudy, Sabine | |
700 | 1 | _aPhilip, Nicole | |
700 | 1 | _aVillard, Laurent | |
773 | 0 |
_tAmerican journal of medical genetics. Part A _gvol. 164A _gno. 8 _gp. 1991-7 |
|
856 | 4 | 0 |
_uhttps://doi.org/10.1002/ajmg.a.36602 _zAvailable from publisher's website |
999 |
_c23815698 _d23815698 |