000 | 01536 a2200421 4500 | ||
---|---|---|---|
005 | 20250516141209.0 | ||
264 | 0 | _c20130909 | |
008 | 201309s 0 0 eng d | ||
022 | _a1552-4833 | ||
024 | 7 |
_a10.1002/ajmg.a.35783 _2doi |
|
040 |
_aNLM _beng _cNLM |
||
100 | 1 | _aHancarova, Miroslava | |
245 | 0 | 0 |
_aA patient with de novo 0.45 Mb deletion of 2p16.1: the role of BCL11A, PAPOLG, REL, and FLJ16341 in the 2p15-p16.1 microdeletion syndrome. _h[electronic resource] |
260 |
_bAmerican journal of medical genetics. Part A _cApr 2013 |
||
300 |
_a865-70 p. _bdigital |
||
500 | _aPublication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't | ||
650 | 0 | 4 |
_aAbnormalities, Multiple _xdiagnosis |
650 | 0 | 4 |
_aCarrier Proteins _xgenetics |
650 | 0 | 4 | _aChild |
650 | 0 | 4 | _aChromosome Deletion |
650 | 0 | 4 | _aChromosomes, Human, Pair 2 |
650 | 0 | 4 | _aFacies |
650 | 0 | 4 | _aFemale |
650 | 0 | 4 | _aGenetic Association Studies |
650 | 0 | 4 | _aHumans |
650 | 0 | 4 |
_aNuclear Proteins _xgenetics |
650 | 0 | 4 | _aPolymorphism, Single Nucleotide |
650 | 0 | 4 |
_aProto-Oncogene Proteins c-rel _xgenetics |
650 | 0 | 4 | _aRepressor Proteins |
650 | 0 | 4 | _aSyndrome |
700 | 1 | _aSimandlova, Martina | |
700 | 1 | _aDrabova, Jana | |
700 | 1 | _aMannik, Katrin | |
700 | 1 | _aKurg, Ants | |
700 | 1 | _aSedlacek, Zdenek | |
773 | 0 |
_tAmerican journal of medical genetics. Part A _gvol. 161A _gno. 4 _gp. 865-70 |
|
856 | 4 | 0 |
_uhttps://doi.org/10.1002/ajmg.a.35783 _zAvailable from publisher's website |
999 |
_c22584214 _d22584214 |