| 000 | 01400 a2200445 4500 | ||
|---|---|---|---|
| 005 | 20250518053934.0 | ||
| 264 | 0 | _c20201223 | |
| 008 | 202012s 0 0 eng d | ||
| 022 | _a1468-1331 | ||
| 024 | 7 |
_a10.1111/ene.14033 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aKrenn, M | |
| 245 | 0 | 0 |
_aGenotype-guided diagnostic reassessment after exome sequencing in neuromuscular disorders: experiences with a two-step approach. _h[electronic resource] |
| 260 |
_bEuropean journal of neurology _c01 2020 |
||
| 300 |
_a51-61 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 | _aExome |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 |
_aGenetic Testing _xmethods |
| 650 | 0 | 4 | _aGenotype |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 |
_aNeuromuscular Diseases _xdiagnosis |
| 650 | 0 | 4 | _aRetrospective Studies |
| 650 | 0 | 4 |
_aExome Sequencing _xmethods |
| 700 | 1 | _aTomschik, M | |
| 700 | 1 | _aRath, J | |
| 700 | 1 | _aCetin, H | |
| 700 | 1 | _aGrisold, A | |
| 700 | 1 | _aZulehner, G | |
| 700 | 1 | _aMilenkovic, I | |
| 700 | 1 | _aStogmann, E | |
| 700 | 1 | _aZimprich, A | |
| 700 | 1 | _aStrom, T M | |
| 700 | 1 | _aMeitinger, T | |
| 700 | 1 | _aWagner, M | |
| 700 | 1 | _aZimprich, F | |
| 773 | 0 |
_tEuropean journal of neurology _gvol. 27 _gno. 1 _gp. 51-61 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1111/ene.14033 _zAvailable from publisher's website |
| 999 |
_c30000516 _d30000516 |
||