000			02227 a2200721 4500
005			20250518013431.0
264		0	_c20190520
008			201905s 0 0 eng d
022			_a1476-5438
024	7		_a10.1038/s41431-018-0299-8 _2doi
040			_aNLM _beng _cNLM
100	1		_aPapuc, Sorina M
245	0	0	_aThe role of recessive inheritance in early-onset epileptic encephalopathies: a combined whole-exome sequencing and copy number study. _h[electronic resource]
260			_bEuropean journal of human genetics : EJHG _c03 2019
300			_a408-421 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	_aDNA Copy Number Variations
650	0	4	_aEpilepsy _xdiagnosis
650	0	4	_aExome
650	0	4	_aFemale
650	0	4	_aGenes, Recessive
650	0	4	_aHumans
650	0	4	_aInfant
650	0	4	_aMale
650	0	4	_aMutation Rate
650	0	4	_aExome Sequencing _xmethods
700	1		_aAbela, Lucia
700	1		_aSteindl, Katharina
700	1		_aBegemann, Anaïs
700	1		_aSimmons, Thomas L
700	1		_aSchmitt, Bernhard
700	1		_aZweier, Markus
700	1		_aOneda, Beatrice
700	1		_aSocher, Eileen
700	1		_aCrowther, Lisa M
700	1		_aWohlrab, Gabriele
700	1		_aGogoll, Laura
700	1		_aPoms, Martin
700	1		_aSeiler, Michelle
700	1		_aPapik, Michael
700	1		_aBaldinger, Rosa
700	1		_aBaumer, Alessandra
700	1		_aAsadollahi, Reza
700	1		_aKroell-Seger, Judith
700	1		_aSchmid, Regula
700	1		_aIff, Tobias
700	1		_aSchmitt-Mechelke, Thomas
700	1		_aOtten, Karoline
700	1		_aHackenberg, Annette
700	1		_aAddor, Marie-Claude
700	1		_aKlein, Andrea
700	1		_aAzzarello-Burri, Silvia
700	1		_aSticht, Heinrich
700	1		_aJoset, Pascal
700	1		_aPlecko, Barbara
700	1		_aRauch, Anita
773	0		_tEuropean journal of human genetics : EJHG _gvol. 27 _gno. 3 _gp. 408-421
856	4	0	_uhttps://doi.org/10.1038/s41431-018-0299-8 _zAvailable from publisher's website
999			_c29165307 _d29165307