000			02286 a2200733 4500
005			20250517092459.0
264		0	_c20170515
008			201705s 0 0 eng d
022			_a1537-6605
024	7		_a10.1016/j.ajhg.2016.03.004 _2doi
040			_aNLM _beng _cNLM
100	1		_aGerber, Sylvie
245	0	0	_aRecessive and Dominant De Novo ITPR1 Mutations Cause Gillespie Syndrome. _h[electronic resource]
260			_bAmerican journal of human genetics _cMay 2016
300			_a971-980 p. _bdigital
500			_aPublication Type: Case Reports; Journal Article
650	0	4	_aAdolescent
650	0	4	_aAniridia _xetiology
650	0	4	_aCerebellar Ataxia _xetiology
650	0	4	_aChild
650	0	4	_aChild, Preschool
650	0	4	_aFemale
650	0	4	_aGenes, Dominant _xgenetics
650	0	4	_aGenes, Recessive _xgenetics
650	0	4	_aHumans
650	0	4	_aInfant
650	0	4	_aInfant, Newborn
650	0	4	_aInositol 1,4,5-Trisphosphate Receptors _xgenetics
650	0	4	_aIntellectual Disability _xetiology
650	0	4	_aMale
650	0	4	_aMutation _xgenetics
650	0	4	_aPedigree
700	1		_aAlzayady, Kamil J
700	1		_aBurglen, Lydie
700	1		_aBrémond-Gignac, Dominique
700	1		_aMarchesin, Valentina
700	1		_aRoche, Olivier
700	1		_aRio, Marlène
700	1		_aFunalot, Benoit
700	1		_aCalmon, Raphaël
700	1		_aDurr, Alexandra
700	1		_aGil-da-Silva-Lopes, Vera Lucia
700	1		_aRibeiro Bittar, Maria Fernanda
700	1		_aOrssaud, Christophe
700	1		_aHéron, Bénédicte
700	1		_aAyoub, Edward
700	1		_aBerquin, Patrick
700	1		_aBahi-Buisson, Nadia
700	1		_aBole, Christine
700	1		_aMasson, Cécile
700	1		_aMunnich, Arnold
700	1		_aSimons, Matias
700	1		_aDelous, Marion
700	1		_aDollfus, Helene
700	1		_aBoddaert, Nathalie
700	1		_aLyonnet, Stanislas
700	1		_aKaplan, Josseline
700	1		_aCalvas, Patrick
700	1		_aYule, David I
700	1		_aRozet, Jean-Michel
700	1		_aFares Taie, Lucas
773	0		_tAmerican journal of human genetics _gvol. 98 _gno. 5 _gp. 971-980
856	4	0	_uhttps://doi.org/10.1016/j.ajhg.2016.03.004 _zAvailable from publisher's website
999			_c25953769 _d25953769