000			01988 a2200601 4500
005			20250517102509.0
264		0	_c20171019
008			201710s 0 0 eng d
022			_a1552-4833
024	7		_a10.1002/ajmg.a.37792 _2doi
040			_aNLM _beng _cNLM
100	1		_aMoortgat, Stéphanie
245	0	0	_aTwo novel EIF2S3 mutations associated with syndromic intellectual disability with severe microcephaly, growth retardation, and epilepsy. _h[electronic resource]
260			_bAmerican journal of medical genetics. Part A _c11 2016
300			_a2927-2933 p. _bdigital
500			_aPublication Type: Journal Article; Research Support, Non-U.S. Gov't
650	0	4	_aAdolescent
650	0	4	_aAlleles
650	0	4	_aAmino Acid Sequence
650	0	4	_aAnimals
650	0	4	_aBrain _xpathology
650	0	4	_aDisease Models, Animal
650	0	4	_aEpilepsy _xdiagnosis
650	0	4	_aEukaryotic Initiation Factor-2 _xgenetics
650	0	4	_aExome
650	0	4	_aFacies
650	0	4	_aFemale
650	0	4	_aGene Knockdown Techniques
650	0	4	_aGenes, X-Linked
650	0	4	_aGenetic Association Studies
650	0	4	_aGenotype
650	0	4	_aGrowth Disorders _xdiagnosis
650	0	4	_aHigh-Throughput Nucleotide Sequencing
650	0	4	_aHumans
650	0	4	_aIntellectual Disability _xdiagnosis
650	0	4	_aMagnetic Resonance Imaging
650	0	4	_aMale
650	0	4	_aMicrocephaly _xdiagnosis
650	0	4	_aMutation
650	0	4	_aPedigree
650	0	4	_aPhenotype
650	0	4	_aSyndrome
650	0	4	_aZebrafish
700	1		_aDésir, Julie
700	1		_aBenoit, Valérie
700	1		_aBoulanger, Sébastien
700	1		_aPendeville, Hélène
700	1		_aNassogne, Marie-Cécile
700	1		_aLederer, Damien
700	1		_aMaystadt, Isabelle
773	0		_tAmerican journal of medical genetics. Part A _gvol. 170 _gno. 11 _gp. 2927-2933
856	4	0	_uhttps://doi.org/10.1002/ajmg.a.37792 _zAvailable from publisher's website
999			_c26151251 _d26151251