| 000 | 01595 a2200469 4500 | ||
|---|---|---|---|
| 005 | 20250516204140.0 | ||
| 264 | 0 | _c20140530 | |
| 008 | 201405s 0 0 eng d | ||
| 022 | _a1537-6605 | ||
| 024 | 7 |
_a10.1016/j.ajhg.2014.03.006 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aGrozeva, Detelina | |
| 245 | 0 | 0 |
_aDe novo loss-of-function mutations in SETD5, encoding a methyltransferase in a 3p25 microdeletion syndrome critical region, cause intellectual disability. _h[electronic resource] |
| 260 |
_bAmerican journal of human genetics _cApr 2014 |
||
| 300 |
_a618-24 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 | _aAdolescent |
| 650 | 0 | 4 | _aChild |
| 650 | 0 | 4 | _aChromosome Deletion |
| 650 | 0 | 4 | _aChromosomes, Human, Pair 3 |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 |
_aIntellectual Disability _xgenetics |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 |
_aMethyltransferases _xgenetics |
| 650 | 0 | 4 | _aMutation |
| 700 | 1 | _aCarss, Keren | |
| 700 | 1 | _aSpasic-Boskovic, Olivera | |
| 700 | 1 | _aParker, Michael J | |
| 700 | 1 | _aArcher, Hayley | |
| 700 | 1 | _aFirth, Helen V | |
| 700 | 1 | _aPark, Soo-Mi | |
| 700 | 1 | _aCanham, Natalie | |
| 700 | 1 | _aHolder, Susan E | |
| 700 | 1 | _aWilson, Meredith | |
| 700 | 1 | _aHackett, Anna | |
| 700 | 1 | _aField, Michael | |
| 700 | 1 | _aFloyd, James A B | |
| 700 | 1 | _aHurles, Matthew | |
| 700 | 1 | _aRaymond, F Lucy | |
| 773 | 0 |
_tAmerican journal of human genetics _gvol. 94 _gno. 4 _gp. 618-24 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1016/j.ajhg.2014.03.006 _zAvailable from publisher's website |
| 999 |
_c23688025 _d23688025 |
||