| 000 | 01769 a2200517 4500 | ||
|---|---|---|---|
| 005 | 20250516052749.0 | ||
| 264 | 0 | _c20120507 | |
| 008 | 201205s 0 0 eng d | ||
| 022 | _a1476-5438 | ||
| 024 | 7 |
_a10.1038/ejhg.2011.166 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aPoole, Rebecca L | |
| 245 | 0 | 0 |
_aBeckwith-Wiedemann syndrome caused by maternally inherited mutation of an OCT-binding motif in the IGF2/H19-imprinting control region, ICR1. _h[electronic resource] |
| 260 |
_bEuropean journal of human genetics : EJHG _cFeb 2012 |
||
| 300 |
_a240-3 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 | _aAlleles |
| 650 | 0 | 4 | _aBase Sequence |
| 650 | 0 | 4 |
_aBeckwith-Wiedemann Syndrome _xdiagnosis |
| 650 | 0 | 4 |
_aBinding Sites _xgenetics |
| 650 | 0 | 4 | _aChild, Preschool |
| 650 | 0 | 4 | _aDNA Methylation |
| 650 | 0 | 4 | _aGene Order |
| 650 | 0 | 4 | _aGenomic Imprinting |
| 650 | 0 | 4 | _aGenotype |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aInfant |
| 650 | 0 | 4 |
_aInsulin-Like Growth Factor II _xgenetics |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 | _aMutation |
| 650 | 0 | 4 |
_aOctamer Transcription Factors _xmetabolism |
| 650 | 0 | 4 | _aPedigree |
| 650 | 0 | 4 | _aPhenotype |
| 650 | 0 | 4 | _aPromoter Regions, Genetic |
| 650 | 0 | 4 | _aRNA, Long Noncoding |
| 650 | 0 | 4 |
_aRNA, Untranslated _xgenetics |
| 700 | 1 | _aLeith, Donald J | |
| 700 | 1 | _aDocherty, Louise E | |
| 700 | 1 | _aShmela, Mansur E | |
| 700 | 1 | _aGicquel, Christine | |
| 700 | 1 | _aSplitt, Miranda | |
| 700 | 1 | _aTemple, I Karen | |
| 700 | 1 | _aMackay, Deborah J G | |
| 773 | 0 |
_tEuropean journal of human genetics : EJHG _gvol. 20 _gno. 2 _gp. 240-3 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1038/ejhg.2011.166 _zAvailable from publisher's website |
| 999 |
_c21105998 _d21105998 |
||