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