000			02201 a2200661 4500
005			20250516041432.0
264		0	_c20111013
008			201110s 0 0 eng d
022			_a1558-8238
024	7		_a10.1172/JCI43639 _2doi
040			_aNLM _beng _cNLM
100	1		_aDafinger, Claudia
245	0	0	_aMutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamics. _h[electronic resource]
260			_bThe Journal of clinical investigation _cJul 2011
300			_a2662-7 p. _bdigital
500			_aPublication Type: Journal Article; Research Support, Non-U.S. Gov't
650	0	4	_aAbnormalities, Multiple
650	0	4	_aAnimals
650	0	4	_aCerebellar Diseases _xgenetics
650	0	4	_aCerebellum _xabnormalities
650	0	4	_aChromosomes, Human, Pair 15
650	0	4	_aConsanguinity
650	0	4	_aDNA Mutational Analysis
650	0	4	_aDrosophila _xgenetics
650	0	4	_aEye Abnormalities _xgenetics
650	0	4	_aGolgi Apparatus _xpathology
650	0	4	_aHedgehog Proteins _xgenetics
650	0	4	_aHumans
650	0	4	_aKidney Diseases, Cystic _xgenetics
650	0	4	_aKinesins _xgenetics
650	0	4	_aMale
650	0	4	_aMice
650	0	4	_aMicrotubules _xmetabolism
650	0	4	_aPedigree
650	0	4	_aRNA, Small Interfering _xgenetics
650	0	4	_aRetina _xabnormalities
650	0	4	_aSignal Transduction _xphysiology
650	0	4	_aTissue Distribution
700	1		_aLiebau, Max Christoph
700	1		_aElsayed, Solaf Mohamed
700	1		_aHellenbroich, Yorck
700	1		_aBoltshauser, Eugen
700	1		_aKorenke, Georg Christoph
700	1		_aFabretti, Francesca
700	1		_aJanecke, Andreas Robert
700	1		_aEbermann, Inga
700	1		_aNürnberg, Gudrun
700	1		_aNürnberg, Peter
700	1		_aZentgraf, Hanswalter
700	1		_aKoerber, Friederike
700	1		_aAddicks, Klaus
700	1		_aElsobky, Ezzat
700	1		_aBenzing, Thomas
700	1		_aSchermer, Bernhard
700	1		_aBolz, Hanno Jörn
773	0		_tThe Journal of clinical investigation _gvol. 121 _gno. 7 _gp. 2662-7
856	4	0	_uhttps://doi.org/10.1172/JCI43639 _zAvailable from publisher's website
999			_c20892477 _d20892477