000			02108 a2200661 4500
005			20250517213000.0
264		0	_c20190221
008			201902s 0 0 eng d
022			_a1476-5438
024	7		_a10.1038/s41431-018-0096-4 _2doi
040			_aNLM _beng _cNLM
100	1		_aMary, Laura
245	0	0	_aDisease-causing variants in TCF4 are a frequent cause of intellectual disability: lessons from large-scale sequencing approaches in diagnosis. _h[electronic resource]
260			_bEuropean journal of human genetics : EJHG _c07 2018
300			_a996-1006 p. _bdigital
500			_aPublication Type: Journal Article; Research Support, Non-U.S. Gov't
650	0	4	_aAdolescent
650	0	4	_aAdult
650	0	4	_aChild
650	0	4	_aChild, Preschool
650	0	4	_aFacies
650	0	4	_aFemale
650	0	4	_aHigh-Throughput Nucleotide Sequencing
650	0	4	_aHumans
650	0	4	_aHyperventilation _xdiagnosis
650	0	4	_aIntellectual Disability _xdiagnosis
650	0	4	_aMale
650	0	4	_aMutation
650	0	4	_aPhenotype
650	0	4	_aTranscription Factor 4 _xgenetics
650	0	4	_aYoung Adult
700	1		_aPiton, Amélie
700	1		_aSchaefer, Elise
700	1		_aMattioli, Francesca
700	1		_aNourisson, Elsa
700	1		_aFeger, Claire
700	1		_aRedin, Claire
700	1		_aBarth, Magali
700	1		_aEl Chehadeh, Salima
700	1		_aColin, Estelle
700	1		_aCoubes, Christine
700	1		_aFaivre, Laurence
700	1		_aFlori, Elisabeth
700	1		_aGeneviève, David
700	1		_aCapri, Yline
700	1		_aPerrin, Laurence
700	1		_aFabre-Teste, Jennifer
700	1		_aTimbolschi, Dana
700	1		_aVerloes, Alain
700	1		_aOlaso, Robert
700	1		_aBoland, Anne
700	1		_aDeleuze, Jean-François
700	1		_aMandel, Jean-Louis
700	1		_aGerard, Bénédicte
700	1		_aGiurgea, Irina
773	0		_tEuropean journal of human genetics : EJHG _gvol. 26 _gno. 7 _gp. 996-1006
856	4	0	_uhttps://doi.org/10.1038/s41431-018-0096-4 _zAvailable from publisher's website
999			_c28327010 _d28327010