000			02138 a2200661 4500
005			20250514200531.0
264		0	_c20050511
008			200505s 0 0 eng d
022			_a1018-4813
024	7		_a10.1038/sj.ejhg.5201260 _2doi
040			_aNLM _beng _cNLM
100	1		_aTeber, Ozge Altug
245	0	0	_aGenotyping in 46 patients with tentative diagnosis of Treacher Collins syndrome revealed unexpected phenotypic variation. _h[electronic resource]
260			_bEuropean journal of human genetics : EJHG _cNov 2004
300			_a879-90 p. _bdigital
500			_aPublication Type: Journal Article; Research Support, Non-U.S. Gov't
650	0	4	_aChromosome Mapping
650	0	4	_aDNA Mutational Analysis _xmethods
650	0	4	_aFemale
650	0	4	_aGenetic Variation
650	0	4	_aGenotype
650	0	4	_aHumans
650	0	4	_aMale
650	0	4	_aMandibulofacial Dysostosis _xdiagnosis
650	0	4	_aMutation
650	0	4	_aNuclear Proteins _xgenetics
650	0	4	_aPedigree
650	0	4	_aPhenotype
650	0	4	_aPhosphoproteins _xgenetics
650	0	4	_aPolymorphism, Single Nucleotide
650	0	4	_aSyndrome
700	1		_aGillessen-Kaesbach, Gabriele
700	1		_aFischer, Sven
700	1		_aBöhringer, Stefan
700	1		_aAlbrecht, Beate
700	1		_aAlbert, Angelika
700	1		_aArslan-Kirchner, Mine
700	1		_aHaan, Eric
700	1		_aHagedorn-Greiwe, Monika
700	1		_aHammans, Christof
700	1		_aHenn, Wolfram
700	1		_aHinkel, Georg Klaus
700	1		_aKönig, Rainer
700	1		_aKunstmann, Erdmute
700	1		_aKunze, Jürgen
700	1		_aNeumann, Luitgard M
700	1		_aPrott, Eva-Christina
700	1		_aRauch, Anita
700	1		_aRott, Hans-Dieter
700	1		_aSeidel, Heide
700	1		_aSpranger, Stephanie
700	1		_aSprengel, Martin
700	1		_aZoll, Barbara
700	1		_aLohmann, Dietmar R
700	1		_aWieczorek, Dagmar
773	0		_tEuropean journal of human genetics : EJHG _gvol. 12 _gno. 11 _gp. 879-90
856	4	0	_uhttps://doi.org/10.1038/sj.ejhg.5201260 _zAvailable from publisher's website
999			_c15037489 _d15037489