| 000 | 02502 a2200757 4500 | ||
|---|---|---|---|
| 005 | 20250516063742.0 | ||
| 264 | 0 | _c20120221 | |
| 008 | 201202s 0 0 eng d | ||
| 022 | _a1537-6605 | ||
| 024 | 7 |
_a10.1016/j.ajhg.2011.10.008 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aClayton-Smith, Jill | |
| 245 | 0 | 0 |
_aWhole-exome-sequencing identifies mutations in histone acetyltransferase gene KAT6B in individuals with the Say-Barber-Biesecker variant of Ohdo syndrome. _h[electronic resource] |
| 260 |
_bAmerican journal of human genetics _cNov 2011 |
||
| 300 |
_a675-81 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 |
_aAbnormalities, Multiple _xgenetics |
| 650 | 0 | 4 | _aAdult |
| 650 | 0 | 4 | _aAnimals |
| 650 | 0 | 4 |
_aBlepharophimosis _xgenetics |
| 650 | 0 | 4 | _aChild |
| 650 | 0 | 4 |
_aChromatin _xmetabolism |
| 650 | 0 | 4 |
_aChromosomes, Human, Pair 10 _xgenetics |
| 650 | 0 | 4 |
_aCodon, Nonsense _xgenetics |
| 650 | 0 | 4 |
_aCongenital Hypothyroidism _xgenetics |
| 650 | 0 | 4 |
_aExome _xgenetics |
| 650 | 0 | 4 | _aFacies |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aGene Expression Regulation, Developmental |
| 650 | 0 | 4 | _aHeart Defects, Congenital |
| 650 | 0 | 4 |
_aHistone Acetyltransferases _xdeficiency |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 |
_aINDEL Mutation _xgenetics |
| 650 | 0 | 4 |
_aIntellectual Disability _xgenetics |
| 650 | 0 | 4 | _aJoint Instability |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 |
_aMetabolism, Inborn Errors _xgenetics |
| 650 | 0 | 4 | _aMice |
| 650 | 0 | 4 | _aMice, Transgenic |
| 650 | 0 | 4 | _aMicroarray Analysis |
| 650 | 0 | 4 |
_aPolymorphism, Single Nucleotide _xgenetics |
| 700 | 1 | _aO'Sullivan, James | |
| 700 | 1 | _aDaly, Sarah | |
| 700 | 1 | _aBhaskar, Sanjeev | |
| 700 | 1 | _aDay, Ruth | |
| 700 | 1 | _aAnderson, Beverley | |
| 700 | 1 | _aVoss, Anne K | |
| 700 | 1 | _aThomas, Tim | |
| 700 | 1 | _aBiesecker, Leslie G | |
| 700 | 1 | _aSmith, Philip | |
| 700 | 1 | _aFryer, Alan | |
| 700 | 1 | _aChandler, Kate E | |
| 700 | 1 | _aKerr, Bronwyn | |
| 700 | 1 | _aTassabehji, May | |
| 700 | 1 | _aLynch, Sally-Ann | |
| 700 | 1 | _aKrajewska-Walasek, Malgorzata | |
| 700 | 1 | _aMcKee, Shane | |
| 700 | 1 | _aSmith, Janine | |
| 700 | 1 | _aSweeney, Elizabeth | |
| 700 | 1 | _aMansour, Sahar | |
| 700 | 1 | _aMohammed, Shehla | |
| 700 | 1 | _aDonnai, Dian | |
| 700 | 1 | _aBlack, Graeme | |
| 773 | 0 |
_tAmerican journal of human genetics _gvol. 89 _gno. 5 _gp. 675-81 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1016/j.ajhg.2011.10.008 _zAvailable from publisher's website |
| 999 |
_c21306415 _d21306415 |
||