| 000 | 01713 a2200529 4500 | ||
|---|---|---|---|
| 005 | 20250515150349.0 | ||
| 264 | 0 | _c20090410 | |
| 008 | 200904s 0 0 eng d | ||
| 022 | _a1098-1004 | ||
| 024 | 7 |
_a10.1002/humu.20888 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aThauvin-Robinet, Christel | |
| 245 | 0 | 0 |
_aGenomic deletions of OFD1 account for 23% of oral-facial-digital type 1 syndrome after negative DNA sequencing. _h[electronic resource] |
| 260 |
_bHuman mutation _cFeb 2009 |
||
| 300 |
_aE320-9 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 |
_aGenome, Human _xgenetics |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 |
_aOrofaciodigital Syndromes _xgenetics |
| 650 | 0 | 4 | _aPolymerase Chain Reaction |
| 650 | 0 | 4 |
_aProteins _xgenetics |
| 650 | 0 | 4 | _aSequence Analysis, DNA |
| 650 | 0 | 4 | _aSequence Deletion |
| 700 | 1 | _aFranco, Brunella | |
| 700 | 1 | _aSaugier-Veber, Pascale | |
| 700 | 1 | _aAral, Bernard | |
| 700 | 1 | _aGigot, Nadège | |
| 700 | 1 | _aDonzel, Anne | |
| 700 | 1 | _aVan Maldergem, Lionel | |
| 700 | 1 | _aBieth, Eric | |
| 700 | 1 | _aLayet, Valérie | |
| 700 | 1 | _aMathieu, Michèle | |
| 700 | 1 | _aTeebi, Ahmad | |
| 700 | 1 | _aLespinasse, James | |
| 700 | 1 | _aCallier, Patrick | |
| 700 | 1 | _aMugneret, Francine | |
| 700 | 1 | _aMasurel-Paulet, Alice | |
| 700 | 1 | _aGautier, Elodie | |
| 700 | 1 | _aHuet, Frédéric | |
| 700 | 1 | _aTeyssier, Jean-Raymond | |
| 700 | 1 | _aTosi, Mario | |
| 700 | 1 | _aFrébourg, Thierry | |
| 700 | 1 | _aFaivre, Laurence | |
| 773 | 0 |
_tHuman mutation _gvol. 30 _gno. 2 _gp. E320-9 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1002/humu.20888 _zAvailable from publisher's website |
| 999 |
_c18480218 _d18480218 |
||