000 01372 a2200361 4500
005 20250516034615.0
264 0 _c20120103
008 201201s 0 0 eng d
022 _a1476-5438
024 7 _a10.1038/ejhg.2011.55
_2doi
040 _aNLM
_beng
_cNLM
100 1 _aJacquemont, Sebastien
245 0 0 _aClinical utility gene card for: fragile X mental retardation syndrome, fragile X-associated tremor/ataxia syndrome and fragile X-associated primary ovarian insufficiency.
_h[electronic resource]
260 _bEuropean journal of human genetics : EJHG
_cSep 2011
500 _aPublication Type: Journal Article; Research Support, Non-U.S. Gov't
650 0 4 _aAtaxia
_xdiagnosis
650 0 4 _aFemale
650 0 4 _aFragile X Mental Retardation Protein
_xgenetics
650 0 4 _aFragile X Syndrome
_xdiagnosis
650 0 4 _aHumans
650 0 4 _aMale
650 0 4 _aPrimary Ovarian Insufficiency
_xdiagnosis
650 0 4 _aSensitivity and Specificity
650 0 4 _aSyndrome
650 0 4 _aTremor
_xdiagnosis
650 0 4 _aTrinucleotide Repeats
700 1 _aBirnbaum, Stefanie
700 1 _aRedler, Silke
700 1 _aSteinbach, Peter
700 1 _aBiancalana, Valérie
773 0 _tEuropean journal of human genetics : EJHG
_gvol. 19
_gno. 9
856 4 0 _uhttps://doi.org/10.1038/ejhg.2011.55
_zAvailable from publisher's website
999 _c20804803
_d20804803