| 000 | 01880 a2200589 4500 | ||
|---|---|---|---|
| 005 | 20250517125644.0 | ||
| 264 | 0 | _c20170705 | |
| 008 | 201707s 0 0 eng d | ||
| 022 | _a1476-5438 | ||
| 024 | 7 |
_a10.1038/ejhg.2016.165 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aKuechler, Alma | |
| 245 | 0 | 0 |
_aBainbridge-Ropers syndrome caused by loss-of-function variants in ASXL3: a recognizable condition. _h[electronic resource] |
| 260 |
_bEuropean journal of human genetics : EJHG _c02 2017 |
||
| 300 |
_a183-191 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 | _aAdolescent |
| 650 | 0 | 4 | _aChild, Preschool |
| 650 | 0 | 4 |
_aDevelopmental Disabilities _xdiagnosis |
| 650 | 0 | 4 |
_aFailure to Thrive _xdiagnosis |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aInfant |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 | _aMutation |
| 650 | 0 | 4 | _aPhenotype |
| 650 | 0 | 4 | _aSyndrome |
| 650 | 0 | 4 |
_aTranscription Factors _xgenetics |
| 700 | 1 | _aCzeschik, Johanna Christina | |
| 700 | 1 | _aGraf, Elisabeth | |
| 700 | 1 | _aGrasshoff, Ute | |
| 700 | 1 | _aHüffmeier, Ulrike | |
| 700 | 1 | _aBusa, Tiffany | |
| 700 | 1 | _aBeck-Woedl, Stefanie | |
| 700 | 1 | _aFaivre, Laurence | |
| 700 | 1 | _aRivière, Jean-Baptiste | |
| 700 | 1 | _aBader, Ingrid | |
| 700 | 1 | _aKoch, Johannes | |
| 700 | 1 | _aReis, André | |
| 700 | 1 | _aHehr, Ute | |
| 700 | 1 | _aRittinger, Olaf | |
| 700 | 1 | _aSperl, Wolfgang | |
| 700 | 1 | _aHaack, Tobias B | |
| 700 | 1 | _aWieland, Thomas | |
| 700 | 1 | _aEngels, Hartmut | |
| 700 | 1 | _aProkisch, Holger | |
| 700 | 1 | _aStrom, Tim M | |
| 700 | 1 | _aLüdecke, Hermann-Josef | |
| 700 | 1 | _aWieczorek, Dagmar | |
| 773 | 0 |
_tEuropean journal of human genetics : EJHG _gvol. 25 _gno. 2 _gp. 183-191 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1038/ejhg.2016.165 _zAvailable from publisher's website |
| 999 |
_c26652380 _d26652380 |
||