000			01992 a2200613 4500
005			20250517014416.0
264		0	_c20160106
008			201601s 0 0 eng d
022			_a1468-6244
024	7		_a10.1136/jmedgenet-2014-102952 _2doi
040			_aNLM _beng _cNLM
100	1		_aCapo-Chichi, José-Mario
245	0	0	_aDisruption of CLPB is associated with congenital microcephaly, severe encephalopathy and 3-methylglutaconic aciduria. _h[electronic resource]
260			_bJournal of medical genetics _cMay 2015
300			_a303-11 p. _bdigital
500			_aPublication Type: Journal Article; Research Support, Non-U.S. Gov't
650	0	4	_aAnimals
650	0	4	_aBrain Diseases _xdiagnosis
650	0	4	_aChromosome Mapping
650	0	4	_aConsanguinity
650	0	4	_aDNA Mutational Analysis
650	0	4	_aEndopeptidase Clp _xgenetics
650	0	4	_aExome
650	0	4	_aGene Knockdown Techniques
650	0	4	_aGenetic Association Studies
650	0	4	_aHigh-Throughput Nucleotide Sequencing
650	0	4	_aHomozygote
650	0	4	_aHumans
650	0	4	_aInfant, Newborn
650	0	4	_aMetabolism, Inborn Errors _xdiagnosis
650	0	4	_aMicrocephaly _xdiagnosis
650	0	4	_aMutation
650	0	4	_aPedigree
650	0	4	_aPhenotype
650	0	4	_aSiblings
650	0	4	_aZebrafish
700	1		_aBoissel, Sarah
700	1		_aBrustein, Edna
700	1		_aPickles, Sarah
700	1		_aFallet-Bianco, Catherine
700	1		_aNassif, Christina
700	1		_aPatry, Lysanne
700	1		_aDobrzeniecka, Sylvia
700	1		_aLiao, Meijiang
700	1		_aLabuda, Damian
700	1		_aSamuels, Mark E
700	1		_aHamdan, Fadi F
700	1		_aVande Velde, Christine
700	1		_aRouleau, Guy A
700	1		_aDrapeau, Pierre
700	1		_aMichaud, Jacques L
773	0		_tJournal of medical genetics _gvol. 52 _gno. 5 _gp. 303-11
856	4	0	_uhttps://doi.org/10.1136/jmedgenet-2014-102952 _zAvailable from publisher's website
999			_c24592998 _d24592998