| 000 | 01819 a2200613 4500 | ||
|---|---|---|---|
| 005 | 20250517150201.0 | ||
| 264 | 0 | _c20180703 | |
| 008 | 201807s 0 0 eng d | ||
| 022 | _a1468-6244 | ||
| 024 | 7 |
_a10.1136/jmedgenet-2017-104521 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aPlecko, Barbara | |
| 245 | 0 | 0 |
_aConfirmation of mutations in _h[electronic resource] |
| 260 |
_bJournal of medical genetics _c12 2017 |
||
| 300 |
_a809-814 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article | ||
| 650 | 0 | 4 | _aAdolescent |
| 650 | 0 | 4 | _aAdult |
| 650 | 0 | 4 | _aAlleles |
| 650 | 0 | 4 | _aChild |
| 650 | 0 | 4 | _aChild, Preschool |
| 650 | 0 | 4 | _aConsanguinity |
| 650 | 0 | 4 | _aDNA Mutational Analysis |
| 650 | 0 | 4 | _aElectroencephalography |
| 650 | 0 | 4 |
_aEpilepsy _xdiagnosis |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aGene Frequency |
| 650 | 0 | 4 | _aGenetic Association Studies |
| 650 | 0 | 4 | _aGenetic Predisposition to Disease |
| 650 | 0 | 4 | _aGenotype |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 | _aMutation |
| 650 | 0 | 4 | _aPhenotype |
| 650 | 0 | 4 |
_aProteins _xgenetics |
| 650 | 0 | 4 |
_aPyridoxine _xtherapeutic use |
| 650 | 0 | 4 |
_aVitamin B 6 _xblood |
| 700 | 1 | _aZweier, Markus | |
| 700 | 1 | _aBegemann, Anaïs | |
| 700 | 1 | _aMathis, Deborah | |
| 700 | 1 | _aSchmitt, Bernhard | |
| 700 | 1 | _aStriano, Pasquale | |
| 700 | 1 | _aBaethmann, Martina | |
| 700 | 1 | _aVari, Maria Stella | |
| 700 | 1 | _aBeccaria, Francesca | |
| 700 | 1 | _aZara, Federico | |
| 700 | 1 | _aCrowther, Lisa M | |
| 700 | 1 | _aJoset, Pascal | |
| 700 | 1 | _aSticht, Heinrich | |
| 700 | 1 | _aPapuc, Sorina Mihaela | |
| 700 | 1 | _aRauch, Anita | |
| 773 | 0 |
_tJournal of medical genetics _gvol. 54 _gno. 12 _gp. 809-814 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1136/jmedgenet-2017-104521 _zAvailable from publisher's website |
| 999 |
_c27063180 _d27063180 |
||