| 000 | 01490 a2200397 4500 | ||
|---|---|---|---|
| 005 | 20250515041007.0 | ||
| 264 | 0 | _c20061213 | |
| 008 | 200612s 0 0 eng d | ||
| 022 | _a1552-4825 | ||
| 024 | 7 |
_a10.1002/ajmg.a.31400 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aBadens, Catherine | |
| 245 | 0 | 0 |
_aATRX syndrome in a girl with a heterozygous mutation in the ATRX Zn finger domain and a totally skewed X-inactivation pattern. _h[electronic resource] |
| 260 |
_bAmerican journal of medical genetics. Part A _cOct 2006 |
||
| 300 |
_a2212-5 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 | _aChild, Preschool |
| 650 | 0 | 4 |
_aDNA Helicases _xgenetics |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 |
_aX-Linked Intellectual Disability _xgenetics |
| 650 | 0 | 4 |
_aMutation _xgenetics |
| 650 | 0 | 4 |
_aNuclear Proteins _xgenetics |
| 650 | 0 | 4 |
_aTrinucleotide Repeats _xgenetics |
| 650 | 0 | 4 |
_aX Chromosome Inactivation _xgenetics |
| 650 | 0 | 4 | _aX-linked Nuclear Protein |
| 650 | 0 | 4 |
_aalpha-Thalassemia _xgenetics |
| 700 | 1 | _aMartini, Nathalie | |
| 700 | 1 | _aCourrier, Sébastien | |
| 700 | 1 | _aDesPortes, Vincent | |
| 700 | 1 | _aTouraine, Renaud | |
| 700 | 1 | _aLevy, Nicolas | |
| 700 | 1 | _aEdery, Patrick | |
| 773 | 0 |
_tAmerican journal of medical genetics. Part A _gvol. 140 _gno. 20 _gp. 2212-5 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1002/ajmg.a.31400 _zAvailable from publisher's website |
| 999 |
_c16539007 _d16539007 |
||