| 000 | 01915 a2200541 4500 | ||
|---|---|---|---|
| 005 | 20250516053727.0 | ||
| 264 | 0 | _c20120605 | |
| 008 | 201206s 0 0 eng d | ||
| 022 | _a1878-0849 | ||
| 024 | 7 |
_a10.1016/j.ejmg.2011.08.001 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aBartsch, Oliver | |
| 245 | 0 | 0 |
_aA girl with an atypical form of ataxia telangiectasia and an additional de novo 3.14 Mb microduplication in region 19q12. _h[electronic resource] |
| 260 |
_bEuropean journal of medical genetics _cJan 2012 |
||
| 300 |
_a49-55 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 |
_aApoptosis Regulatory Proteins _xgenetics |
| 650 | 0 | 4 |
_aAtaxia Telangiectasia _xdiagnosis |
| 650 | 0 | 4 | _aAtaxia Telangiectasia Mutated Proteins |
| 650 | 0 | 4 |
_aCell Cycle Proteins _xgenetics |
| 650 | 0 | 4 | _aChild |
| 650 | 0 | 4 | _aChromosome Duplication |
| 650 | 0 | 4 | _aChromosome Inversion |
| 650 | 0 | 4 |
_aChromosomes, Human, Pair 19 _xgenetics |
| 650 | 0 | 4 | _aDNA Damage |
| 650 | 0 | 4 |
_aDNA-Binding Proteins _xgenetics |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 |
_aLymphocytes _xcytology |
| 650 | 0 | 4 |
_aMental Disorders _xgenetics |
| 650 | 0 | 4 | _aMetaphase |
| 650 | 0 | 4 |
_aMicrocephaly _xgenetics |
| 650 | 0 | 4 |
_aProtein Serine-Threonine Kinases _xgenetics |
| 650 | 0 | 4 |
_aSaliva _xcytology |
| 650 | 0 | 4 |
_aTumor Suppressor Proteins _xgenetics |
| 700 | 1 | _aSchindler, Detlev | |
| 700 | 1 | _aBeyer, Vera | |
| 700 | 1 | _aGesk, Stefan | |
| 700 | 1 | _avan't Slot, Ruben | |
| 700 | 1 | _aFeddersen, Isa | |
| 700 | 1 | _aBuijs, Arjan | |
| 700 | 1 | _aJaspers, Nicolaas G J | |
| 700 | 1 | _aSiebert, Reiner | |
| 700 | 1 | _aHaaf, Thomas | |
| 700 | 1 | _aPoot, Martin | |
| 773 | 0 |
_tEuropean journal of medical genetics _gvol. 55 _gno. 1 _gp. 49-55 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1016/j.ejmg.2011.08.001 _zAvailable from publisher's website |
| 999 |
_c21133907 _d21133907 |
||