| 000 | 01654 a2200457 4500 | ||
|---|---|---|---|
| 005 | 20250516100422.0 | ||
| 264 | 0 | _c20130425 | |
| 008 | 201304s 0 0 eng d | ||
| 022 | _a1432-1076 | ||
| 024 | 7 |
_a10.1007/s00431-012-1776-7 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aSchlump, Jan-Ulrich | |
| 245 | 0 | 0 |
_aTreacher Collins syndrome: clinical implications for the paediatrician--a new mutation in a severely affected newborn and comparison with three further patients with the same mutation, and review of the literature. _h[electronic resource] |
| 260 |
_bEuropean journal of pediatrics _cNov 2012 |
||
| 300 |
_a1611-8 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't; Review | ||
| 650 | 0 | 4 | _aChild |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aFrameshift Mutation |
| 650 | 0 | 4 | _aGenetic Markers |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aInfant, Newborn |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 |
_aMandibulofacial Dysostosis _xdiagnosis |
| 650 | 0 | 4 |
_aNuclear Proteins _xgenetics |
| 650 | 0 | 4 | _aPhenotype |
| 650 | 0 | 4 |
_aPhosphoproteins _xgenetics |
| 700 | 1 | _aStein, Anja | |
| 700 | 1 | _aHehr, Ute | |
| 700 | 1 | _aKaren, Tanja | |
| 700 | 1 | _aMöller-Hartmann, Claudia | |
| 700 | 1 | _aElcioglu, Nursel H | |
| 700 | 1 | _aBogdanova, Nadja | |
| 700 | 1 | _aWoike, Hartmut Fritz | |
| 700 | 1 | _aLohmann, Dietmar R | |
| 700 | 1 | _aFelderhoff-Mueser, Ursula | |
| 700 | 1 | _aLinz, Annette | |
| 700 | 1 | _aWieczorek, Dagmar | |
| 773 | 0 |
_tEuropean journal of pediatrics _gvol. 171 _gno. 11 _gp. 1611-8 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1007/s00431-012-1776-7 _zAvailable from publisher's website |
| 999 |
_c21891152 _d21891152 |
||