000 02267 a2200757 4500
005 20250516131135.0
264 0 _c20130404
008 201304s 0 0 eng d
022 _a1537-6605
024 7 _a10.1016/j.ajhg.2012.12.002
_2doi
040 _aNLM
_beng
_cNLM
100 1 _aStuart, Helen M
245 0 0 _aLRIG2 mutations cause urofacial syndrome.
_h[electronic resource]
260 _bAmerican journal of human genetics
_cFeb 2013
300 _a259-64 p.
_bdigital
500 _aPublication Type: Journal Article; Research Support, Non-U.S. Gov't
650 0 4 _aBase Sequence
650 0 4 _aChild
650 0 4 _aChild, Preschool
650 0 4 _aDNA Mutational Analysis
650 0 4 _aFacies
650 0 4 _aFamily
650 0 4 _aFemale
650 0 4 _aHumans
650 0 4 _aImmunohistochemistry
650 0 4 _aInfant
650 0 4 _aMale
650 0 4 _aMembrane Glycoproteins
_xgenetics
650 0 4 _aMolecular Sequence Data
650 0 4 _aMutation
_xgenetics
650 0 4 _aPedigree
650 0 4 _aUrinary Bladder
_xpathology
650 0 4 _aUrinary Bladder, Neurogenic
_xgenetics
650 0 4 _aUrologic Diseases
_xgenetics
700 1 _aRoberts, Neil A
700 1 _aBurgu, Berk
700 1 _aDaly, Sarah B
700 1 _aUrquhart, Jill E
700 1 _aBhaskar, Sanjeev
700 1 _aDickerson, Jonathan E
700 1 _aMermerkaya, Murat
700 1 _aSilay, Mesrur Selcuk
700 1 _aLewis, Malcolm A
700 1 _aOlondriz, M Beatriz Orive
700 1 _aGener, Blanca
700 1 _aBeetz, Christian
700 1 _aVarga, Rita E
700 1 _aGülpınar, Omer
700 1 _aSüer, Evren
700 1 _aSoygür, Tarkan
700 1 _aOzçakar, Zeynep B
700 1 _aYalçınkaya, Fatoş
700 1 _aKavaz, Aslı
700 1 _aBulum, Burcu
700 1 _aGücük, Adnan
700 1 _aYue, Wyatt W
700 1 _aErdogan, Firat
700 1 _aBerry, Andrew
700 1 _aHanley, Neil A
700 1 _aMcKenzie, Edward A
700 1 _aHilton, Emma N
700 1 _aWoolf, Adrian S
700 1 _aNewman, William G
773 0 _tAmerican journal of human genetics
_gvol. 92
_gno. 2
_gp. 259-64
856 4 0 _uhttps://doi.org/10.1016/j.ajhg.2012.12.002
_zAvailable from publisher's website
999 _c22413644
_d22413644