| 000 | 02397 a2200781 4500 | ||
|---|---|---|---|
| 005 | 20250517120238.0 | ||
| 264 | 0 | _c20170524 | |
| 008 | 201705s 0 0 eng d | ||
| 022 | _a1537-6605 | ||
| 024 | 7 |
_a10.1016/j.ajhg.2016.08.017 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aShashi, Vandana | |
| 245 | 0 | 0 |
_aDe Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype. _h[electronic resource] |
| 260 |
_bAmerican journal of human genetics _cOct 2016 |
||
| 300 |
_a991-999 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article | ||
| 650 | 0 | 4 | _aChild |
| 650 | 0 | 4 | _aChild, Preschool |
| 650 | 0 | 4 |
_aDevelopmental Disabilities _xgenetics |
| 650 | 0 | 4 |
_aExome _xgenetics |
| 650 | 0 | 4 |
_aEyebrows _xabnormalities |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 |
_aHypertelorism _xgenetics |
| 650 | 0 | 4 | _aInfant |
| 650 | 0 | 4 | _aInfant, Newborn |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 |
_aMegalencephaly _xgenetics |
| 650 | 0 | 4 |
_aMuscle Hypotonia _xgenetics |
| 650 | 0 | 4 | _aPhenotype |
| 650 | 0 | 4 |
_aRNA, Messenger _xmetabolism |
| 650 | 0 | 4 |
_aRepressor Proteins _xgenetics |
| 650 | 0 | 4 | _aSyndrome |
| 700 | 1 | _aPena, Loren D M | |
| 700 | 1 | _aKim, Katherine | |
| 700 | 1 | _aBurton, Barbara | |
| 700 | 1 | _aHempel, Maja | |
| 700 | 1 | _aSchoch, Kelly | |
| 700 | 1 | _aWalkiewicz, Magdalena | |
| 700 | 1 | _aMcLaughlin, Heather M | |
| 700 | 1 | _aCho, Megan | |
| 700 | 1 | _aStong, Nicholas | |
| 700 | 1 | _aHickey, Scott E | |
| 700 | 1 | _aShuss, Christine M | |
| 700 | 1 | _aFreemark, Michael S | |
| 700 | 1 | _aBellet, Jane S | |
| 700 | 1 | _aKeels, Martha Ann | |
| 700 | 1 | _aBonner, Melanie J | |
| 700 | 1 | _aEl-Dairi, Maysantoine | |
| 700 | 1 | _aButler, Megan | |
| 700 | 1 | _aKranz, Peter G | |
| 700 | 1 | _aStumpel, Constance T R M | |
| 700 | 1 | _aKlinkenberg, Sylvia | |
| 700 | 1 | _aOberndorff, Karin | |
| 700 | 1 | _aAlawi, Malik | |
| 700 | 1 | _aSanter, Rene | |
| 700 | 1 | _aPetrovski, Slavé | |
| 700 | 1 | _aKuismin, Outi | |
| 700 | 1 | _aKorpi-Heikkilä, Satu | |
| 700 | 1 | _aPietilainen, Olli | |
| 700 | 1 | _aAarno, Palotie | |
| 700 | 1 | _aKurki, Mitja I | |
| 700 | 1 | _aHoischen, Alexander | |
| 700 | 1 | _aNeed, Anna C | |
| 700 | 1 | _aGoldstein, David B | |
| 700 | 1 | _aKortüm, Fanny | |
| 773 | 0 |
_tAmerican journal of human genetics _gvol. 99 _gno. 4 _gp. 991-999 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1016/j.ajhg.2016.08.017 _zAvailable from publisher's website |
| 999 |
_c26474924 _d26474924 |
||