| 000 | 01746 a2200529 4500 | ||
|---|---|---|---|
| 005 | 20250515235535.0 | ||
| 264 | 0 | _c20110328 | |
| 008 | 201103s 0 0 eng d | ||
| 022 | _a1476-5438 | ||
| 024 | 7 |
_a10.1038/ejhg.2010.135 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aHawkins, Malcolm | |
| 245 | 0 | 0 |
_aPreparation and validation of the first WHO international genetic reference panel for Fragile X syndrome. _h[electronic resource] |
| 260 |
_bEuropean journal of human genetics : EJHG _cJan 2011 |
||
| 300 |
_a10-7 p. _bdigital |
||
| 500 | _aPublication Type: Evaluation Study; Journal Article; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 | _aCell Line, Transformed |
| 650 | 0 | 4 |
_aDNA _xgenetics |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 |
_aFragile X Mental Retardation Protein _xgenetics |
| 650 | 0 | 4 |
_aFragile X Syndrome _xdiagnosis |
| 650 | 0 | 4 |
_aGenetic Testing _xstandards |
| 650 | 0 | 4 | _aGenotype |
| 650 | 0 | 4 | _aHerpesvirus 4, Human |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 |
_aLymphocytes _xvirology |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 | _aMutation |
| 650 | 0 | 4 | _aReference Standards |
| 650 | 0 | 4 | _aWorld Health Organization |
| 700 | 1 | _aBoyle, Jennifer | |
| 700 | 1 | _aWright, Kathleen E | |
| 700 | 1 | _aElles, Rob | |
| 700 | 1 | _aRamsden, Simon C | |
| 700 | 1 | _aO'Grady, Anna | |
| 700 | 1 | _aSweeney, Michael | |
| 700 | 1 | _aBarton, David E | |
| 700 | 1 | _aBurgess, Trent | |
| 700 | 1 | _aMoore, Melanie | |
| 700 | 1 | _aBurns, Chris | |
| 700 | 1 | _aStacey, Glyn | |
| 700 | 1 | _aGray, Elaine | |
| 700 | 1 | _aMetcalfe, Paul | |
| 700 | 1 | _aHawkins, J Ross | |
| 773 | 0 |
_tEuropean journal of human genetics : EJHG _gvol. 19 _gno. 1 _gp. 10-7 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1038/ejhg.2010.135 _zAvailable from publisher's website |
| 999 |
_c20072117 _d20072117 |
||