| 000 | 01379 a2200409 4500 | ||
|---|---|---|---|
| 005 | 20250515145757.0 | ||
| 264 | 0 | _c20091012 | |
| 008 | 200910s 0 0 eng d | ||
| 022 | _a1872-7131 | ||
| 024 | 7 |
_a10.1016/j.braindev.2008.10.001 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aTüysüz, Beyhan | |
| 245 | 0 | 0 |
_aMucolipidosis type IV in a Turkish boy associated with a novel MCOLN1 mutation. _h[electronic resource] |
| 260 |
_bBrain & development _cOct 2009 |
||
| 300 |
_a702-5 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article | ||
| 650 | 0 | 4 | _aChild |
| 650 | 0 | 4 |
_aCorpus Callosum _xpathology |
| 650 | 0 | 4 | _aGenetic Predisposition to Disease |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 |
_aInternal Capsule _xpathology |
| 650 | 0 | 4 | _aMagnetic Resonance Imaging |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 |
_aMicrognathism _xpathology |
| 650 | 0 | 4 |
_aMucolipidoses _xdiagnosis |
| 650 | 0 | 4 | _aPhenotype |
| 650 | 0 | 4 |
_aPoint Mutation _xgenetics |
| 650 | 0 | 4 |
_aTRPM Cation Channels _xgenetics |
| 650 | 0 | 4 | _aTransient Receptor Potential Channels |
| 650 | 0 | 4 | _aTurkey |
| 700 | 1 | _aGoldin, Ehud | |
| 700 | 1 | _aMetin, Bariş | |
| 700 | 1 | _aKorkmaz, Bariş | |
| 700 | 1 | _aYalçinkaya, Cengiz | |
| 773 | 0 |
_tBrain & development _gvol. 31 _gno. 9 _gp. 702-5 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1016/j.braindev.2008.10.001 _zAvailable from publisher's website |
| 999 |
_c18464212 _d18464212 |
||