000			01990 a2200589 4500
005			20250517065858.0
264		0	_c20161213
008			201612s 0 0 eng d
022			_a1460-2083
024	7		_a10.1093/hmg/ddv495 _2doi
040			_aNLM _beng _cNLM
100	1		_aSollis, Elliot
245	0	0	_aIdentification and functional characterization of de novo FOXP1 variants provides novel insights into the etiology of neurodevelopmental disorder. _h[electronic resource]
260			_bHuman molecular genetics _cFeb 2016
300			_a546-57 p. _bdigital
500			_aPublication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
650	0	4	_aAdolescent
650	0	4	_aBase Sequence
650	0	4	_aChild
650	0	4	_aDNA _xgenetics
650	0	4	_aDevelopmental Disabilities _xgenetics
650	0	4	_aExome
650	0	4	_aFemale
650	0	4	_aForkhead Transcription Factors _xgenetics
650	0	4	_aGene Expression Regulation
650	0	4	_aHigh-Throughput Nucleotide Sequencing
650	0	4	_aHumans
650	0	4	_aHypertelorism _xgenetics
650	0	4	_aIntellectual Disability _xgenetics
650	0	4	_aLanguage Development Disorders _xgenetics
650	0	4	_aMale
650	0	4	_aMolecular Sequence Data
650	0	4	_aMutation, Missense
650	0	4	_aPedigree
650	0	4	_aProtein Binding
650	0	4	_aRepressor Proteins _xgenetics
650	0	4	_aSignal Transduction
650	0	4	_aTranscription, Genetic
700	1		_aGraham, Sarah A
700	1		_aVino, Arianna
700	1		_aFroehlich, Henning
700	1		_aVreeburg, Maaike
700	1		_aDimitropoulou, Danai
700	1		_aGilissen, Christian
700	1		_aPfundt, Rolph
700	1		_aRappold, Gudrun A
700	1		_aBrunner, Han G
700	1		_aDeriziotis, Pelagia
700	1		_aFisher, Simon E
773	0		_tHuman molecular genetics _gvol. 25 _gno. 3 _gp. 546-57
856	4	0	_uhttps://doi.org/10.1093/hmg/ddv495 _zAvailable from publisher's website
999			_c25523372 _d25523372