| 000 | 01739 a2200505 4500 | ||
|---|---|---|---|
| 005 | 20250517163049.0 | ||
| 264 | 0 | _c20171130 | |
| 008 | 201711s 0 0 eng d | ||
| 022 | _a1552-4833 | ||
| 024 | 7 |
_a10.1002/ajmg.a.38327 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aSeabra, Catarina M | |
| 245 | 0 | 0 |
_aA novel microduplication of ARID1B: Clinical, genetic, and proteomic findings. _h[electronic resource] |
| 260 |
_bAmerican journal of medical genetics. Part A _cSep 2017 |
||
| 300 |
_a2478-2484 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article | ||
| 650 | 0 | 4 | _aAbnormalities, Multiple |
| 650 | 0 | 4 | _aAdolescent |
| 650 | 0 | 4 |
_aDNA-Binding Proteins _xgenetics |
| 650 | 0 | 4 |
_aDevelopmental Disabilities _xgenetics |
| 650 | 0 | 4 |
_aFace _xphysiopathology |
| 650 | 0 | 4 |
_aGene Duplication _xgenetics |
| 650 | 0 | 4 |
_aHand Deformities, Congenital _xgenetics |
| 650 | 0 | 4 |
_aHaploinsufficiency _xgenetics |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aIn Situ Hybridization, Fluorescence |
| 650 | 0 | 4 |
_aIntellectual Disability _xgenetics |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 | _aMutation |
| 650 | 0 | 4 | _aProteomics |
| 650 | 0 | 4 |
_aTranscription Factors _xgenetics |
| 700 | 1 | _aSzoko, Nicholas | |
| 700 | 1 | _aErdin, Serkan | |
| 700 | 1 | _aRagavendran, Ashok | |
| 700 | 1 | _aStortchevoi, Alexei | |
| 700 | 1 | _aMaciel, Patrícia | |
| 700 | 1 | _aLundberg, Kathleen | |
| 700 | 1 | _aSchlatzer, Daniela | |
| 700 | 1 | _aSmith, Janice | |
| 700 | 1 | _aTalkowski, Michael E | |
| 700 | 1 | _aGusella, James F | |
| 700 | 1 | _aNatowicz, Marvin R | |
| 773 | 0 |
_tAmerican journal of medical genetics. Part A _gvol. 173 _gno. 9 _gp. 2478-2484 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1002/ajmg.a.38327 _zAvailable from publisher's website |
| 999 |
_c27352301 _d27352301 |
||