| 000 | 02308 a2200745 4500 | ||
|---|---|---|---|
| 005 | 20250517170507.0 | ||
| 264 | 0 | _c20170901 | |
| 008 | 201709s 0 0 eng d | ||
| 022 | _a1756-994X | ||
| 024 | 7 |
_a10.1186/s13073-017-0463-8 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aBostwick, Bret L | |
| 245 | 0 | 0 |
_aPhenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders. _h[electronic resource] |
| 260 |
_bGenome medicine _c08 2017 |
||
| 300 |
_a73 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article; Research Support, Non-U.S. Gov't; Research Support, N.I.H., Extramural | ||
| 650 | 0 | 4 | _aAdolescent |
| 650 | 0 | 4 | _aAdult |
| 650 | 0 | 4 |
_aCDC2 Protein Kinase _xgenetics |
| 650 | 0 | 4 | _aChild |
| 650 | 0 | 4 | _aChild, Preschool |
| 650 | 0 | 4 |
_aFace _xabnormalities |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 |
_aHeart Defects, Congenital _xgenetics |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aInfant |
| 650 | 0 | 4 |
_aIntellectual Disability _xgenetics |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 | _aMutation |
| 650 | 0 | 4 | _aPhenotype |
| 650 | 0 | 4 | _aSyndrome |
| 700 | 1 | _aMcLean, Scott | |
| 700 | 1 | _aPosey, Jennifer E | |
| 700 | 1 | _aStreff, Haley E | |
| 700 | 1 | _aGripp, Karen W | |
| 700 | 1 | _aBlesson, Alyssa | |
| 700 | 1 | _aPowell-Hamilton, Nina | |
| 700 | 1 | _aTusi, Jessica | |
| 700 | 1 | _aStevenson, David A | |
| 700 | 1 | _aFarrelly, Ellyn | |
| 700 | 1 | _aHudgins, Louanne | |
| 700 | 1 | _aYang, Yaping | |
| 700 | 1 | _aXia, Fan | |
| 700 | 1 | _aWang, Xia | |
| 700 | 1 | _aLiu, Pengfei | |
| 700 | 1 | _aWalkiewicz, Magdalena | |
| 700 | 1 | _aMcGuire, Marianne | |
| 700 | 1 | _aGrange, Dorothy K | |
| 700 | 1 | _aAndrews, Marisa V | |
| 700 | 1 | _aHummel, Marybeth | |
| 700 | 1 | _aMadan-Khetarpal, Suneeta | |
| 700 | 1 | _aInfante, Elena | |
| 700 | 1 | _aCoban-Akdemir, Zeynep | |
| 700 | 1 | _aMiszalski-Jamka, Karol | |
| 700 | 1 | _aJefferies, John L | |
| 700 | 1 | _aRosenfeld, Jill A | |
| 700 | 1 | _aEmrick, Lisa | |
| 700 | 1 | _aNugent, Kimberly M | |
| 700 | 1 | _aLupski, James R | |
| 700 | 1 | _aBelmont, John W | |
| 700 | 1 | _aLee, Brendan | |
| 700 | 1 | _aLalani, Seema R | |
| 773 | 0 |
_tGenome medicine _gvol. 9 _gno. 1 _gp. 73 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1186/s13073-017-0463-8 _zAvailable from publisher's website |
| 999 |
_c27464440 _d27464440 |
||