| 000 | 01504 a2200457 4500 | ||
|---|---|---|---|
| 005 | 20250514233955.0 | ||
| 264 | 0 | _c20060809 | |
| 008 | 200608s 0 0 eng d | ||
| 022 | _a1468-6244 | ||
| 024 | 7 |
_a10.1136/jmg.2005.035287 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aSeemanová, E | |
| 245 | 0 | 0 |
_aNijmegen breakage syndrome (NBS) with neurological abnormalities and without chromosomal instability. _h[electronic resource] |
| 260 |
_bJournal of medical genetics _cMar 2006 |
||
| 300 |
_a218-24 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 | _aAmino Acid Substitution |
| 650 | 0 | 4 |
_aCell Cycle Proteins _xgenetics |
| 650 | 0 | 4 | _aChromosomal Instability |
| 650 | 0 | 4 | _aChromosome Mapping |
| 650 | 0 | 4 | _aCzech Republic |
| 650 | 0 | 4 | _aDiseases in Twins |
| 650 | 0 | 4 | _aGenes, Recessive |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 |
_aMicrocephaly _xgenetics |
| 650 | 0 | 4 | _aMutation |
| 650 | 0 | 4 |
_aNijmegen Breakage Syndrome _xgenetics |
| 650 | 0 | 4 |
_aNuclear Proteins _xgenetics |
| 650 | 0 | 4 | _aPhosphorylation |
| 650 | 0 | 4 | _aPolymerase Chain Reaction |
| 700 | 1 | _aSperling, K | |
| 700 | 1 | _aNeitzel, H | |
| 700 | 1 | _aVaron, R | |
| 700 | 1 | _aHadac, J | |
| 700 | 1 | _aButova, O | |
| 700 | 1 | _aSchröck, E | |
| 700 | 1 | _aSeeman, P | |
| 700 | 1 | _aDigweed, M | |
| 773 | 0 |
_tJournal of medical genetics _gvol. 43 _gno. 3 _gp. 218-24 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1136/jmg.2005.035287 _zAvailable from publisher's website |
| 999 |
_c15688337 _d15688337 |
||