000			02331 a2200721 4500
005			20250517142139.0
264		0	_c20170510
008			201705s 0 0 eng d
022			_a1537-6605
024	7		_a10.1016/j.ajhg.2017.01.034 _2doi
040			_aNLM _beng _cNLM
100	1		_aPaolini, Nahuel A
245	0	0	_aA Ribosomopathy Reveals Decoding Defective Ribosomes Driving Human Dysmorphism. _h[electronic resource]
260			_bAmerican journal of human genetics _cMar 2017
300			_a506-522 p. _bdigital
500			_aPublication Type: Journal Article
650	0	4	_aAutism Spectrum Disorder _xgenetics
650	0	4	_aCarrier Proteins _xgenetics
650	0	4	_aCells, Cultured
650	0	4	_aChild
650	0	4	_aChild, Preschool
650	0	4	_aCodon _xgenetics
650	0	4	_aDevelopmental Disabilities _xgenetics
650	0	4	_aExome
650	0	4	_aFemale
650	0	4	_aFibroblasts _xcytology
650	0	4	_aGenetic Variation
650	0	4	_aHearing Loss _xgenetics
650	0	4	_aHumans
650	0	4	_aIntellectual Disability _xgenetics
650	0	4	_aMale
650	0	4	_aMicrocephaly _xgenetics
650	0	4	_aMutation
650	0	4	_aMutation, Missense
650	0	4	_aNuclear Proteins _xgenetics
650	0	4	_aOxidative Stress
650	0	4	_aProtein Biosynthesis _xgenetics
650	0	4	_aRibosomal Proteins _xgenetics
650	0	4	_aRibosomes _xgenetics
650	0	4	_aSequence Alignment
650	0	4	_aSequence Analysis, DNA
700	1		_aAttwood, Martin
700	1		_aSondalle, Samuel B
700	1		_aVieira, Carolina Marques Dos Santos
700	1		_avan Adrichem, Anita M
700	1		_adi Summa, Franca M
700	1		_aO'Donohue, Marie-Françoise
700	1		_aGleizes, Pierre-Emmanuel
700	1		_aRachuri, Swaksha
700	1		_aBriggs, Joseph W
700	1		_aFischer, Roman
700	1		_aRatcliffe, Peter J
700	1		_aWlodarski, Marcin W
700	1		_aHoutkooper, Riekelt H
700	1		_avon Lindern, Marieke
700	1		_aKuijpers, Taco W
700	1		_aDinman, Jonathan D
700	1		_aBaserga, Susan J
700	1		_aCockman, Matthew E
700	1		_aMacInnes, Alyson W
773	0		_tAmerican journal of human genetics _gvol. 100 _gno. 3 _gp. 506-522
856	4	0	_uhttps://doi.org/10.1016/j.ajhg.2017.01.034 _zAvailable from publisher's website
999			_c26933515 _d26933515