| 000 | 01713 a2200541 4500 | ||
|---|---|---|---|
| 005 | 20250517020841.0 | ||
| 264 | 0 | _c20150512 | |
| 008 | 201505s 0 0 eng d | ||
| 022 | _a1537-6605 | ||
| 024 | 7 |
_a10.1016/j.ajhg.2015.01.016 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aTham, Emma | |
| 245 | 0 | 0 |
_aDominant mutations in KAT6A cause intellectual disability with recognizable syndromic features. _h[electronic resource] |
| 260 |
_bAmerican journal of human genetics _cMar 2015 |
||
| 300 |
_a507-13 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article; Multicenter Study; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 | _aAdolescent |
| 650 | 0 | 4 | _aChild |
| 650 | 0 | 4 | _aChild, Preschool |
| 650 | 0 | 4 | _aComparative Genomic Hybridization |
| 650 | 0 | 4 | _aExome |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aGene Deletion |
| 650 | 0 | 4 | _aGenetic Loci |
| 650 | 0 | 4 | _aHeterozygote |
| 650 | 0 | 4 |
_aHistone Acetyltransferases _xgenetics |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aInfant |
| 650 | 0 | 4 |
_aIntellectual Disability _xgenetics |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 |
_aMicrocephaly _xgenetics |
| 650 | 0 | 4 | _aMutation |
| 650 | 0 | 4 | _aPedigree |
| 650 | 0 | 4 | _aPhenotype |
| 700 | 1 | _aLindstrand, Anna | |
| 700 | 1 | _aSantani, Avni | |
| 700 | 1 | _aMalmgren, Helena | |
| 700 | 1 | _aNesbitt, Addie | |
| 700 | 1 | _aDubbs, Holly A | |
| 700 | 1 | _aZackai, Elaine H | |
| 700 | 1 | _aParker, Michael J | |
| 700 | 1 | _aMillan, Francisca | |
| 700 | 1 | _aRosenbaum, Kenneth | |
| 700 | 1 | _aWilson, Golder N | |
| 700 | 1 | _aNordgren, Ann | |
| 773 | 0 |
_tAmerican journal of human genetics _gvol. 96 _gno. 3 _gp. 507-13 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1016/j.ajhg.2015.01.016 _zAvailable from publisher's website |
| 999 |
_c24666993 _d24666993 |
||