| 000 | 01508 a2200433 4500 | ||
|---|---|---|---|
| 005 | 20250515203452.0 | ||
| 264 | 0 | _c20100402 | |
| 008 | 201004s 0 0 eng d | ||
| 022 | _a1552-4833 | ||
| 024 | 7 |
_a10.1002/ajmg.a.33202 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aBackx, Liesbeth | |
| 245 | 0 | 0 |
_aHaploinsufficiency of the gene Quaking (QKI) is associated with the 6q terminal deletion syndrome. _h[electronic resource] |
| 260 |
_bAmerican journal of medical genetics. Part A _cFeb 2010 |
||
| 300 |
_a319-26 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 |
_aAbnormalities, Multiple _xgenetics |
| 650 | 0 | 4 | _aAdult |
| 650 | 0 | 4 | _aChromosome Deletion |
| 650 | 0 | 4 | _aChromosomes, Human, Pair 6 |
| 650 | 0 | 4 | _aComparative Genomic Hybridization |
| 650 | 0 | 4 | _aDNA Mutational Analysis |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aIn Situ Hybridization, Fluorescence |
| 650 | 0 | 4 | _aKaryotyping |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 | _aPhenotype |
| 650 | 0 | 4 |
_aRNA-Binding Proteins _xgenetics |
| 650 | 0 | 4 | _aSyndrome |
| 650 | 0 | 4 | _aTranslocation, Genetic |
| 700 | 1 | _aFryns, Jean-Pierre | |
| 700 | 1 | _aMarcelis, Carlo | |
| 700 | 1 | _aDevriendt, Koen | |
| 700 | 1 | _aVermeesch, Joris | |
| 700 | 1 | _aVan Esch, Hilde | |
| 773 | 0 |
_tAmerican journal of medical genetics. Part A _gvol. 152A _gno. 2 _gp. 319-26 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1002/ajmg.a.33202 _zAvailable from publisher's website |
| 999 |
_c19459576 _d19459576 |
||