000 | 02009 a2200709 4500 | ||
---|---|---|---|
005 | 20250517135851.0 | ||
264 | 0 | _c20180430 | |
008 | 201804s 0 0 eng d | ||
022 | _a1399-0004 | ||
024 | 7 |
_a10.1111/cge.12987 _2doi |
|
040 |
_aNLM _beng _cNLM |
||
100 | 1 | _aBalci, T B | |
245 | 0 | 0 |
_aDebunking Occam's razor: Diagnosing multiple genetic diseases in families by whole-exome sequencing. _h[electronic resource] |
260 |
_bClinical genetics _cSep 2017 |
||
300 |
_a281-289 p. _bdigital |
||
500 | _aPublication Type: Journal Article; Meta-Analysis | ||
650 | 0 | 4 |
_aCanada _xepidemiology |
650 | 0 | 4 | _aChild, Preschool |
650 | 0 | 4 | _aConsanguinity |
650 | 0 | 4 | _aFamily |
650 | 0 | 4 | _aFemale |
650 | 0 | 4 | _aGenetic Association Studies |
650 | 0 | 4 |
_aGenetic Diseases, Inborn _xdiagnosis |
650 | 0 | 4 | _aGenetic Predisposition to Disease |
650 | 0 | 4 | _aGenetic Testing |
650 | 0 | 4 | _aGenotype |
650 | 0 | 4 | _aHumans |
650 | 0 | 4 | _aMale |
650 | 0 | 4 | _aMutation |
650 | 0 | 4 | _aPedigree |
650 | 0 | 4 | _aPhenotype |
650 | 0 | 4 | _aRetrospective Studies |
650 | 0 | 4 | _aSiblings |
650 | 0 | 4 |
_aExome Sequencing _xmethods |
700 | 1 | _aHartley, T | |
700 | 1 | _aXi, Y | |
700 | 1 | _aDyment, D A | |
700 | 1 | _aBeaulieu, C L | |
700 | 1 | _aBernier, F P | |
700 | 1 | _aDupuis, L | |
700 | 1 | _aHorvath, G A | |
700 | 1 | _aMendoza-Londono, R | |
700 | 1 | _aPrasad, C | |
700 | 1 | _aRicher, J | |
700 | 1 | _aYang, X-R | |
700 | 1 | _aArmour, C M | |
700 | 1 | _aBareke, E | |
700 | 1 | _aFernandez, B A | |
700 | 1 | _aMcMillan, H J | |
700 | 1 | _aLamont, R E | |
700 | 1 | _aMajewski, J | |
700 | 1 | _aParboosingh, J S | |
700 | 1 | _aPrasad, A N | |
700 | 1 | _aRupar, C A | |
700 | 1 | _aSchwartzentruber, J | |
700 | 1 | _aSmith, A C | |
700 | 1 | _aTétreault, M | |
700 | 1 | _aInnes, A M | |
700 | 1 | _aBoycott, K M | |
773 | 0 |
_tClinical genetics _gvol. 92 _gno. 3 _gp. 281-289 |
|
856 | 4 | 0 |
_uhttps://doi.org/10.1111/cge.12987 _zAvailable from publisher's website |
999 |
_c26858243 _d26858243 |