| 000 | 02372 a2200673 4500 | ||
|---|---|---|---|
| 005 | 20250516095251.0 | ||
| 264 | 0 | _c20130520 | |
| 008 | 201305s 0 0 eng d | ||
| 022 | _a1476-5438 | ||
| 024 | 7 |
_a10.1038/ejhg.2012.117 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aBaas, Annette F | |
| 245 | 0 | 0 |
_aAgenesis of the corpus callosum and gray matter heterotopia in three patients with constitutional mismatch repair deficiency syndrome. _h[electronic resource] |
| 260 |
_bEuropean journal of human genetics : EJHG _cJan 2013 |
||
| 300 |
_a55-61 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 |
_aAdaptor Proteins, Signal Transducing _xgenetics |
| 650 | 0 | 4 |
_aAdenosine Triphosphatases _xgenetics |
| 650 | 0 | 4 |
_aAgenesis of Corpus Callosum _xgenetics |
| 650 | 0 | 4 | _aChild |
| 650 | 0 | 4 | _aChild, Preschool |
| 650 | 0 | 4 |
_aContractile Proteins _xgenetics |
| 650 | 0 | 4 |
_aDNA Repair Enzymes _xgenetics |
| 650 | 0 | 4 |
_aDNA Repair-Deficiency Disorders _xetiology |
| 650 | 0 | 4 |
_aDNA-Binding Proteins _xgenetics |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aFilamins |
| 650 | 0 | 4 |
_aGlioblastoma _xcomplications |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 |
_aMalformations of Cortical Development, Group II _xgenetics |
| 650 | 0 | 4 |
_aMicrofilament Proteins _xgenetics |
| 650 | 0 | 4 | _aMicrosatellite Instability |
| 650 | 0 | 4 | _aMismatch Repair Endonuclease PMS2 |
| 650 | 0 | 4 | _aMutL Protein Homolog 1 |
| 650 | 0 | 4 | _aMutation |
| 650 | 0 | 4 |
_aNuclear Proteins _xgenetics |
| 650 | 0 | 4 |
_aParotid Neoplasms _xcomplications |
| 650 | 0 | 4 | _aPregnancy |
| 650 | 0 | 4 | _aSyndrome |
| 700 | 1 | _aGabbett, Michael | |
| 700 | 1 | _aRimac, Milan | |
| 700 | 1 | _aKansikas, Minttu | |
| 700 | 1 | _aRaphael, Martine | |
| 700 | 1 | _aNievelstein, Rutger Aj | |
| 700 | 1 | _aNicholls, Wayne | |
| 700 | 1 | _aOfferhaus, Johan | |
| 700 | 1 | _aBodmer, Danielle | |
| 700 | 1 | _aWernstedt, Annekatrin | |
| 700 | 1 | _aKrabichler, Birgit | |
| 700 | 1 | _aStrasser, Ulrich | |
| 700 | 1 | _aNyström, Minna | |
| 700 | 1 | _aZschocke, Johannes | |
| 700 | 1 | _aRobertson, Stephen P | |
| 700 | 1 | _avan Haelst, Mieke M | |
| 700 | 1 | _aWimmer, Katharina | |
| 773 | 0 |
_tEuropean journal of human genetics : EJHG _gvol. 21 _gno. 1 _gp. 55-61 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1038/ejhg.2012.117 _zAvailable from publisher's website |
| 999 |
_c21859279 _d21859279 |
||