000			02155 a2200649 4500
005			20250518100555.0
264		0	_c20200727
008			202007s 0 0 eng d
022			_a1537-6605
024	7		_a10.1016/j.ajhg.2020.04.001 _2doi
040			_aNLM _beng _cNLM
100	1		_aChung, Hyung-Lok
245	0	0	_aDe Novo Variants in CDK19 Are Associated with a Syndrome Involving Intellectual Disability and Epileptic Encephalopathy. _h[electronic resource]
260			_bAmerican journal of human genetics _c05 2020
300			_a717-725 p. _bdigital
500			_aPublication Type: Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
650	0	4	_aAdult
650	0	4	_aAmino Acid Sequence
650	0	4	_aAnimals
650	0	4	_aBrain Diseases _xgenetics
650	0	4	_aChild, Preschool
650	0	4	_aCyclin-Dependent Kinase 8 _xdeficiency
650	0	4	_aCyclin-Dependent Kinases _xgenetics
650	0	4	_aDrosophila Proteins _xdeficiency
650	0	4	_aDrosophila melanogaster _xgenetics
650	0	4	_aEpilepsy, Generalized _xgenetics
650	0	4	_aFemale
650	0	4	_aHumans
650	0	4	_aInfant
650	0	4	_aInfant, Newborn
650	0	4	_aIntellectual Disability _xgenetics
650	0	4	_aMale
650	0	4	_aMutation, Missense _xgenetics
650	0	4	_aNeuromuscular Junction
650	0	4	_aRare Diseases _xgenetics
650	0	4	_aSeizures _xgenetics
650	0	4	_aSyndrome
650	0	4	_aYoung Adult
700	1		_aMao, Xiao
700	1		_aWang, Hua
700	1		_aPark, Ye-Jin
700	1		_aMarcogliese, Paul C
700	1		_aRosenfeld, Jill A
700	1		_aBurrage, Lindsay C
700	1		_aLiu, Pengfei
700	1		_aMurdock, David R
700	1		_aYamamoto, Shinya
700	1		_aWangler, Michael F
700	1		_aChao, Hsiao-Tuan
700	1		_aLong, Hongyu
700	1		_aFeng, Li
700	1		_aBacino, Carlos A
700	1		_aBellen, Hugo J
700	1		_aXiao, Bo
773	0		_tAmerican journal of human genetics _gvol. 106 _gno. 5 _gp. 717-725
856	4	0	_uhttps://doi.org/10.1016/j.ajhg.2020.04.001 _zAvailable from publisher's website
999			_c30896735 _d30896735