000			02124 a2200637 4500
005			20250516230603.0
264		0	_c20150626
008			201506s 0 0 eng d
022			_a1098-1004
024	7		_a10.1002/humu.22636 _2doi
040			_aNLM _beng _cNLM
100	1		_aUtami, Kagistia Hana
245	0	0	_aImpaired development of neural-crest cell-derived organs and intellectual disability caused by MED13L haploinsufficiency. _h[electronic resource]
260			_bHuman mutation _cNov 2014
300			_a1311-20 p. _bdigital
500			_aPublication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't; Review
650	0	4	_aAnimals
650	0	4	_aCell Differentiation _xgenetics
650	0	4	_aCell Movement _xgenetics
650	0	4	_aChild, Preschool
650	0	4	_aChromosome Breakpoints
650	0	4	_aDisease Models, Animal
650	0	4	_aEmbryonic Stem Cells _xmetabolism
650	0	4	_aFemale
650	0	4	_aGene Expression
650	0	4	_aGene Expression Profiling
650	0	4	_aGene Expression Regulation, Developmental
650	0	4	_aGene Knockdown Techniques
650	0	4	_aGenetic Association Studies
650	0	4	_aHaploinsufficiency
650	0	4	_aHumans
650	0	4	_aIntellectual Disability _xdiagnosis
650	0	4	_aMediator Complex _xgenetics
650	0	4	_aNeural Crest _xembryology
650	0	4	_aNeurons _xcytology
650	0	4	_aPhenotype
650	0	4	_aRNA, Messenger _xgenetics
650	0	4	_aSequence Analysis, DNA
650	0	4	_aTranscriptome
650	0	4	_aTranslocation, Genetic
650	0	4	_aZebrafish
700	1		_aWinata, Cecilia Lanny
700	1		_aHillmer, Axel M
700	1		_aAksoy, Irene
700	1		_aLong, Hoang Truong
700	1		_aLiany, Herty
700	1		_aChew, Elaine G Y
700	1		_aMathavan, Sinnakaruppan
700	1		_aTay, Stacey K H
700	1		_aKorzh, Vladimir
700	1		_aSarda, Pierre
700	1		_aDavila, Sonia
700	1		_aCacheux, Valere
773	0		_tHuman mutation _gvol. 35 _gno. 11 _gp. 1311-20
856	4	0	_uhttps://doi.org/10.1002/humu.22636 _zAvailable from publisher's website
999			_c24111863 _d24111863