000			02330 a2200721 4500
005			20250515014044.0
264		0	_c20060509
008			200605s 0 0 eng d
022			_a0364-5134
024	7		_a10.1002/ana.20749 _2doi
040			_aNLM _beng _cNLM
100	1		_aValente, Enza Maria
245	0	0	_aAHI1 gene mutations cause specific forms of Joubert syndrome-related disorders. _h[electronic resource]
260			_bAnnals of neurology _cMar 2006
300			_a527-34 p. _bdigital
500			_aPublication Type: Comparative Study; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
650	0	4	_aAdaptor Proteins, Signal Transducing _xgenetics
650	0	4	_aAdaptor Proteins, Vesicular Transport
650	0	4	_aAdolescent
650	0	4	_aAdult
650	0	4	_aAnimals
650	0	4	_aBrain Diseases _xdiagnosis
650	0	4	_aBrain Stem _xpathology
650	0	4	_aChild
650	0	4	_aChild, Preschool
650	0	4	_aChromosome Disorders _xgenetics
650	0	4	_aDNA Mutational Analysis _xmethods
650	0	4	_aDevelopmental Disabilities _xgenetics
650	0	4	_aFamily Health
650	0	4	_aFemale
650	0	4	_aGene Frequency
650	0	4	_aHumans
650	0	4	_aInfant
650	0	4	_aMagnetic Resonance Imaging _xmethods
650	0	4	_aMale
650	0	4	_aModels, Molecular
650	0	4	_aMutation
650	0	4	_aPolymorphism, Genetic
700	1		_aBrancati, Francesco
700	1		_aSilhavy, Jennifer L
700	1		_aCastori, Marco
700	1		_aMarsh, Sarah E
700	1		_aBarrano, Giuseppe
700	1		_aBertini, Enrico
700	1		_aBoltshauser, Eugen
700	1		_aZaki, Maha S
700	1		_aAbdel-Aleem, Alice
700	1		_aAbdel-Salam, Ghada M H
700	1		_aBellacchio, Emanuele
700	1		_aBattini, Roberta
700	1		_aCruse, Robert P
700	1		_aDobyns, William B
700	1		_aKrishnamoorthy, Kalpathy S
700	1		_aLagier-Tourenne, Clotilde
700	1		_aMagee, Alex
700	1		_aPascual-Castroviejo, Ignacio
700	1		_aSalpietro, Carmelo D
700	1		_aSarco, Dean
700	1		_aDallapiccola, Bruno
700	1		_aGleeson, Joseph G
773	0		_tAnnals of neurology _gvol. 59 _gno. 3 _gp. 527-34
856	4	0	_uhttps://doi.org/10.1002/ana.20749 _zAvailable from publisher's website
999			_c16066804 _d16066804