000 01235 a2200361 4500
005 20250516001921.0
264 0 _c20101207
008 201012s 0 0 eng d
022 _a0065-2598
024 7 _a10.1007/978-90-481-9485-8_8
_2doi
040 _aNLM
_beng
_cNLM
100 1 _aGrosse, Scott D
245 0 0 _aEvaluation of the validity and utility of genetic testing for rare diseases.
_h[electronic resource]
260 _bAdvances in experimental medicine and biology
_c2010
300 _a115-31 p.
_bdigital
500 _aPublication Type: Evaluation Study; Journal Article; Review
650 0 4 _aCystic Fibrosis
_xdiagnosis
650 0 4 _aFemale
650 0 4 _aGenetic Carrier Screening
650 0 4 _aGenetic Counseling
650 0 4 _aGenetic Testing
650 0 4 _aHumans
650 0 4 _aInfant, Newborn
650 0 4 _aMale
650 0 4 _aNeonatal Screening
650 0 4 _aPregnancy
650 0 4 _aRare Diseases
_xdiagnosis
650 0 4 _aReproducibility of Results
700 1 _aKalman, Lisa
700 1 _aKhoury, Muin J
773 0 _tAdvances in experimental medicine and biology
_gvol. 686
_gp. 115-31
856 4 0 _uhttps://doi.org/10.1007/978-90-481-9485-8_8
_zAvailable from publisher's website
999 _c20156849
_d20156849