000			02075 a2200697 4500
005			20250517124313.0
264		0	_c20170726
008			201707s 0 0 eng d
022			_a1432-1203
024	7		_a10.1007/s00439-016-1743-x _2doi
040			_aNLM _beng _cNLM
100	1		_aBramswig, Nuria C
245	0	0	_aIdentification of new TRIP12 variants and detailed clinical evaluation of individuals with non-syndromic intellectual disability with or without autism. _h[electronic resource]
260			_bHuman genetics _c02 2017
300			_a179-192 p. _bdigital
500			_aPublication Type: Journal Article; Research Support, Non-U.S. Gov't
650	0	4	_aAdolescent
650	0	4	_aAutistic Disorder _xdiagnosis
650	0	4	_aBase Sequence
650	0	4	_aCarrier Proteins _xgenetics
650	0	4	_aChild
650	0	4	_aCohort Studies
650	0	4	_aFemale
650	0	4	_aGenetic Variation
650	0	4	_aGenome, Human
650	0	4	_aHumans
650	0	4	_aIntellectual Disability _xdiagnosis
650	0	4	_aKaryotyping
650	0	4	_aMale
650	0	4	_aMutation, Missense
650	0	4	_aPhenotype
650	0	4	_aProteolysis
650	0	4	_aRNA Splicing
650	0	4	_aSequence Analysis, DNA
650	0	4	_aUbiquitin-Protein Ligases _xgenetics
700	1		_aLüdecke, H-J
700	1		_aPettersson, M
700	1		_aAlbrecht, B
700	1		_aBernier, R A
700	1		_aCremer, K
700	1		_aEichler, E E
700	1		_aFalkenstein, D
700	1		_aGerdts, J
700	1		_aJansen, S
700	1		_aKuechler, A
700	1		_aKvarnung, M
700	1		_aLindstrand, A
700	1		_aNilsson, D
700	1		_aNordgren, A
700	1		_aPfundt, R
700	1		_aSpruijt, L
700	1		_aSurowy, H M
700	1		_ade Vries, B B A
700	1		_aWieland, T
700	1		_aEngels, H
700	1		_aStrom, T M
700	1		_aKleefstra, T
700	1		_aWieczorek, D
773	0		_tHuman genetics _gvol. 136 _gno. 2 _gp. 179-192
856	4	0	_uhttps://doi.org/10.1007/s00439-016-1743-x _zAvailable from publisher's website
999			_c26607490 _d26607490