| 000 | 01375 a2200385 4500 | ||
|---|---|---|---|
| 005 | 20250517130231.0 | ||
| 264 | 0 | _c20170626 | |
| 008 | 201706s 0 0 eng d | ||
| 022 | _a2791-6421 | ||
| 024 | 7 |
_a10.24953/turkjped.2016.01.015 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aBekircan-Kurt, Can Ebru | |
| 245 | 0 | 0 |
_aA novel de novo mutation involving the MLL2 gene in a Kabuki syndrome patient presenting with seizures. _h[electronic resource] |
| 260 |
_bThe Turkish journal of pediatrics _c2016 |
||
| 300 |
_a97-100 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article | ||
| 650 | 0 | 4 |
_aAbnormalities, Multiple _xgenetics |
| 650 | 0 | 4 | _aAdolescent |
| 650 | 0 | 4 |
_aDNA-Binding Proteins _xgenetics |
| 650 | 0 | 4 | _aElectroencephalography |
| 650 | 0 | 4 |
_aEpilepsy _xdrug therapy |
| 650 | 0 | 4 |
_aFace _xabnormalities |
| 650 | 0 | 4 |
_aHematologic Diseases _xgenetics |
| 650 | 0 | 4 | _aHeterozygote |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 | _aMutation |
| 650 | 0 | 4 |
_aNeoplasm Proteins _xgenetics |
| 650 | 0 | 4 |
_aVestibular Diseases _xgenetics |
| 700 | 1 | _aŞimşek-Kiper, Pelin Özlem | |
| 700 | 1 | _aBoduroğlu, Koray | |
| 700 | 1 | _aDericioğlu, Neşe | |
| 773 | 0 |
_tThe Turkish journal of pediatrics _gvol. 58 _gno. 1 _gp. 97-100 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.24953/turkjped.2016.01.015 _zAvailable from publisher's website |
| 999 |
_c26670451 _d26670451 |
||