| 000 | 01839 a2200577 4500 | ||
|---|---|---|---|
| 005 | 20250517132946.0 | ||
| 008 | ####s 0 0 eng d | ||
| 022 | _a1537-6605 | ||
| 024 | 7 |
_a10.1016/j.ajhg.2016.12.004 _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 _c01 2017 |
||
| 300 |
_a179 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article; Published Erratum | ||
| 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. 100 _gno. 1 _gp. 179 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1016/j.ajhg.2016.12.004 _zAvailable from publisher's website |
| 999 |
_c26760278 _d26760278 |
||