000 01645 a2200505 4500
005 20250516171234.0
264 0 _c20140616
008 201406s 0 0 eng d
022 _a1098-1004
024 7 _a10.1002/humu.22442
_2doi
040 _aNLM
_beng
_cNLM
100 1 _aVulto-van Silfhout, Anneke T
245 0 0 _aClinical significance of de novo and inherited copy-number variation.
_h[electronic resource]
260 _bHuman mutation
_cDec 2013
300 _a1679-87 p.
_bdigital
500 _aPublication Type: Journal Article; Research Support, Non-U.S. Gov't
650 0 4 _aAbnormalities, Multiple
_xdiagnosis
650 0 4 _aAdolescent
650 0 4 _aChild
650 0 4 _aChild, Preschool
650 0 4 _aChromosome Mapping
650 0 4 _aComputational Biology
_xmethods
650 0 4 _aDNA Copy Number Variations
650 0 4 _aFemale
650 0 4 _aGenetic Association Studies
650 0 4 _aHumans
650 0 4 _aIntellectual Disability
_xdiagnosis
650 0 4 _aMale
650 0 4 _aPhenotype
650 0 4 _aPolymorphism, Single Nucleotide
700 1 _aHehir-Kwa, Jayne Y
700 1 _avan Bon, Bregje W M
700 1 _aSchuurs-Hoeijmakers, Janneke H M
700 1 _aMeader, Stephen
700 1 _aHellebrekers, Claudia J M
700 1 _aThoonen, Ilse J M
700 1 _ade Brouwer, Arjan P M
700 1 _aBrunner, Han G
700 1 _aWebber, Caleb
700 1 _aPfundt, Rolph
700 1 _ade Leeuw, Nicole
700 1 _ade Vries, Bert B A
773 0 _tHuman mutation
_gvol. 34
_gno. 12
_gp. 1679-87
856 4 0 _uhttps://doi.org/10.1002/humu.22442
_zAvailable from publisher's website
999 _c23091061
_d23091061