| 000 | 01917 a2200493 4500 | ||
|---|---|---|---|
| 005 | 20250515015619.0 | ||
| 264 | 0 | _c20060621 | |
| 008 | 200606s 0 0 eng d | ||
| 022 | _a1090-3798 | ||
| 024 | 7 |
_a10.1016/j.ejpn.2005.10.004 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aVerheij, Johanna B G M | |
| 245 | 0 | 0 |
_aShah-Waardenburg syndrome and PCWH associated with SOX10 mutations: a case report and review of the literature. _h[electronic resource] |
| 260 |
_bEuropean journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society _cJan 2006 |
||
| 300 |
_a11-7 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article | ||
| 650 | 0 | 4 |
_aBrain _xpathology |
| 650 | 0 | 4 |
_aDNA-Binding Proteins _xgenetics |
| 650 | 0 | 4 |
_aDemyelinating Diseases _xdiagnostic imaging |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 |
_aGrowth _xphysiology |
| 650 | 0 | 4 |
_aHigh Mobility Group Proteins _xgenetics |
| 650 | 0 | 4 |
_aHirschsprung Disease _xdiagnostic imaging |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aInfant, Newborn |
| 650 | 0 | 4 | _aMagnetic Resonance Imaging |
| 650 | 0 | 4 |
_aMuscle Hypotonia _xgenetics |
| 650 | 0 | 4 | _aMutation |
| 650 | 0 | 4 |
_aNeural Conduction _xphysiology |
| 650 | 0 | 4 | _aNeurologic Examination |
| 650 | 0 | 4 | _aRadiography |
| 650 | 0 | 4 | _aSOXE Transcription Factors |
| 650 | 0 | 4 | _aSyndrome |
| 650 | 0 | 4 |
_aTranscription Factors _xgenetics |
| 650 | 0 | 4 |
_aWaardenburg Syndrome _xdiagnostic imaging |
| 700 | 1 | _aSival, Deborah A | |
| 700 | 1 | _avan der Hoeven, Johannes H | |
| 700 | 1 | _aVos, Yvonne J | |
| 700 | 1 | _aMeiners, Linda C | |
| 700 | 1 | _aBrouwer, Oebele F | |
| 700 | 1 | _avan Essen, Anthonie J | |
| 773 | 0 |
_tEuropean journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society _gvol. 10 _gno. 1 _gp. 11-7 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1016/j.ejpn.2005.10.004 _zAvailable from publisher's website |
| 999 |
_c16115183 _d16115183 |
||