| 000 | 01750 a2200505 4500 | ||
|---|---|---|---|
| 005 | 20250517074443.0 | ||
| 264 | 0 | _c20171211 | |
| 008 | 201712s 0 0 eng d | ||
| 022 | _a1530-0366 | ||
| 024 | 7 |
_a10.1038/gim.2015.186 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aHelbig, Katherine L | |
| 245 | 0 | 0 |
_aDiagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy. _h[electronic resource] |
| 260 |
_bGenetics in medicine : official journal of the American College of Medical Genetics _c09 2016 |
||
| 300 |
_a898-905 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article | ||
| 650 | 0 | 4 | _aAdolescent |
| 650 | 0 | 4 | _aAdult |
| 650 | 0 | 4 | _aChild |
| 650 | 0 | 4 | _aChild, Preschool |
| 650 | 0 | 4 |
_aDNA-Binding Proteins _xgenetics |
| 650 | 0 | 4 | _aDynamins |
| 650 | 0 | 4 |
_aEpilepsy _xdiagnosis |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 |
_aGTP Phosphohydrolases _xgenetics |
| 650 | 0 | 4 | _aGenetic Predisposition to Disease |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aInfant |
| 650 | 0 | 4 | _aInfant, Newborn |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 |
_aMicrotubule-Associated Proteins _xgenetics |
| 650 | 0 | 4 |
_aMitochondrial Proteins _xgenetics |
| 650 | 0 | 4 | _aPathology, Molecular |
| 650 | 0 | 4 |
_aTranscription Factors _xgenetics |
| 650 | 0 | 4 |
_aExome Sequencing _xmethods |
| 700 | 1 | _aFarwell Hagman, Kelly D | |
| 700 | 1 | _aShinde, Deepali N | |
| 700 | 1 | _aMroske, Cameron | |
| 700 | 1 | _aPowis, Zöe | |
| 700 | 1 | _aLi, Shuwei | |
| 700 | 1 | _aTang, Sha | |
| 700 | 1 | _aHelbig, Ingo | |
| 773 | 0 |
_tGenetics in medicine : official journal of the American College of Medical Genetics _gvol. 18 _gno. 9 _gp. 898-905 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1038/gim.2015.186 _zAvailable from publisher's website |
| 999 |
_c25656061 _d25656061 |
||