| 000 | 01384 a2200433 4500 | ||
|---|---|---|---|
| 005 | 20250514223238.0 | ||
| 264 | 0 | _c20050712 | |
| 008 | 200507s 0 0 eng d | ||
| 022 | _a0009-9163 | ||
| 024 | 7 |
_a10.1111/j.1399-0004.2005.00436.x _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aFichera, M | |
| 245 | 0 | 0 |
_aSkewed X-inactivation in a family with mental retardation and PQBP1 gene mutation. _h[electronic resource] |
| 260 |
_bClinical genetics _cMay 2005 |
||
| 300 |
_a446-7 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Letter; Research Support, Non-U.S. Gov't; Comment | ||
| 650 | 0 | 4 | _aAdult |
| 650 | 0 | 4 |
_aCarrier Proteins _xgenetics |
| 650 | 0 | 4 | _aDNA Mutational Analysis |
| 650 | 0 | 4 | _aDNA-Binding Proteins |
| 650 | 0 | 4 | _aDosage Compensation, Genetic |
| 650 | 0 | 4 | _aGenotype |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 |
_aIntellectual Disability _xgenetics |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 |
_aNuclear Proteins _xgenetics |
| 650 | 0 | 4 | _aPedigree |
| 650 | 0 | 4 | _aPhenotype |
| 700 | 1 | _aFalco, M | |
| 700 | 1 | _aLo Giudice, M | |
| 700 | 1 | _aCastiglia, L | |
| 700 | 1 | _aGuarnaccia, V | |
| 700 | 1 | _aCalì, F | |
| 700 | 1 | _aSpalletta, A | |
| 700 | 1 | _aScuderi, C | |
| 700 | 1 | _aAvola, E | |
| 773 | 0 |
_tClinical genetics _gvol. 67 _gno. 5 _gp. 446-7 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1111/j.1399-0004.2005.00436.x _zAvailable from publisher's website |
| 999 |
_c15480764 _d15480764 |
||