| 000 | 01223 a2200361 4500 | ||
|---|---|---|---|
| 005 | 20250517060636.0 | ||
| 264 | 0 | _c20170206 | |
| 008 | 201702s 0 0 eng d | ||
| 022 | _a1435-232X | ||
| 024 | 7 |
_a10.1038/jhg.2015.125 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aPowis, Zöe | |
| 245 | 0 | 0 |
_aDiagnostic exome sequencing for patients with a family history of consanguinity: over 38% of positive results are not autosomal recessive pattern. _h[electronic resource] |
| 260 |
_bJournal of human genetics _cFeb 2016 |
||
| 300 |
_a173-5 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article | ||
| 650 | 0 | 4 | _aConsanguinity |
| 650 | 0 | 4 | _aExome |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aGenes, Recessive |
| 650 | 0 | 4 |
_aGenetic Diseases, Inborn _xdiagnosis |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aInheritance Patterns |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 | _aMolecular Diagnostic Techniques |
| 650 | 0 | 4 | _aMutation |
| 650 | 0 | 4 | _aSequence Analysis, DNA |
| 700 | 1 | _aFarwell, Kelly D | |
| 700 | 1 | _aAlamillo, Christina L | |
| 700 | 1 | _aTang, Sha | |
| 773 | 0 |
_tJournal of human genetics _gvol. 61 _gno. 2 _gp. 173-5 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1038/jhg.2015.125 _zAvailable from publisher's website |
| 999 |
_c25376499 _d25376499 |
||