| 000 | 01525 a2200421 4500 | ||
|---|---|---|---|
| 005 | 20250515150929.0 | ||
| 264 | 0 | _c20090428 | |
| 008 | 200904s 0 0 eng d | ||
| 022 | _a1878-0849 | ||
| 024 | 7 |
_a10.1016/j.ejmg.2008.11.002 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aPoot, Martin | |
| 245 | 0 | 0 |
_aThree de novo losses and one insertion within a pericentric inversion of chromosome 6 in a patient with complete absence of expressive speech and reduced pain perception. _h[electronic resource] |
| 260 |
_bEuropean journal of medical genetics _c |
||
| 300 |
_a27-30 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article | ||
| 650 | 0 | 4 | _aAdult |
| 650 | 0 | 4 |
_aBrain _xgrowth & development |
| 650 | 0 | 4 | _aCell Adhesion Molecules, Neuronal |
| 650 | 0 | 4 | _aChromosome Aberrations |
| 650 | 0 | 4 | _aChromosome Mapping |
| 650 | 0 | 4 | _aChromosomes, Human, Pair 6 |
| 650 | 0 | 4 |
_aCytogenetic Analysis _xmethods |
| 650 | 0 | 4 |
_aFace _xphysiopathology |
| 650 | 0 | 4 | _aFamily Health |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aReceptor, Cannabinoid, CB1 |
| 650 | 0 | 4 |
_aSomatosensory Disorders _xgenetics |
| 650 | 0 | 4 |
_aSpeech Disorders _xgenetics |
| 700 | 1 | _avan't Slot, Ruben | |
| 700 | 1 | _aLeupert, Romina | |
| 700 | 1 | _aBeyer, Vera | |
| 700 | 1 | _aPassarge, Eberhard | |
| 700 | 1 | _aHaaf, Thomas | |
| 773 | 0 |
_tEuropean journal of medical genetics _gvol. 52 _gno. 1 _gp. 27-30 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1016/j.ejmg.2008.11.002 _zAvailable from publisher's website |
| 999 |
_c18497098 _d18497098 |
||