000			02203 a2200685 4500
005			20250517060113.0
264		0	_c20161012
008			201610s 0 0 eng d
022			_a1468-6244
024	7		_a10.1136/jmedgenet-2015-103428 _2doi
040			_aNLM _beng _cNLM
100	1		_ade Kock, Leanne
245	0	0	_aHigh-sensitivity sequencing reveals multi-organ somatic mosaicism causing DICER1 syndrome. _h[electronic resource]
260			_bJournal of medical genetics _cJan 2016
300			_a43-52 p. _bdigital
500			_aPublication Type: Journal Article; Research Support, Non-U.S. Gov't
650	0	4	_aChild
650	0	4	_aChild, Preschool
650	0	4	_aComputational Biology _xmethods
650	0	4	_aDEAD-box RNA Helicases _xgenetics
650	0	4	_aDNA Mutational Analysis
650	0	4	_aFemale
650	0	4	_aGenetic Association Studies
650	0	4	_aHigh-Throughput Nucleotide Sequencing _xmethods
650	0	4	_aHumans
650	0	4	_aLoss of Heterozygosity
650	0	4	_aMale
650	0	4	_aMosaicism
650	0	4	_aMutation
650	0	4	_aNeoplasms, Multiple Primary _xdiagnosis
650	0	4	_aPhenotype
650	0	4	_aRibonuclease III _xgenetics
650	0	4	_aSensitivity and Specificity
650	0	4	_aSyndrome
700	1		_aWang, Yu Chang
700	1		_aRevil, Timothée
700	1		_aBadescu, Dunarel
700	1		_aRivera, Barbara
700	1		_aSabbaghian, Nelly
700	1		_aWu, Mona
700	1		_aWeber, Evan
700	1		_aSandoval, Claudio
700	1		_aHopman, Saskia M J
700	1		_aMerks, Johannes H M
700	1		_avan Hagen, Johanna M
700	1		_aBouts, Antonia H M
700	1		_aPlager, David A
700	1		_aRamasubramanian, Aparna
700	1		_aForsmark, Linus
700	1		_aDoyle, Kristine L
700	1		_aToler, Tonja
700	1		_aCallahan, Janine
700	1		_aEngelenberg, Charlotte
700	1		_aBouron-Dal Soglio, Dorothée
700	1		_aPriest, John R
700	1		_aRagoussis, Jiannis
700	1		_aFoulkes, William D
773	0		_tJournal of medical genetics _gvol. 53 _gno. 1 _gp. 43-52
856	4	0	_uhttps://doi.org/10.1136/jmedgenet-2015-103428 _zAvailable from publisher's website
999			_c25361864 _d25361864