| 000 | 01676 a2200517 4500 | ||
|---|---|---|---|
| 005 | 20250516182354.0 | ||
| 264 | 0 | _c20150413 | |
| 008 | 201504s 0 0 eng d | ||
| 022 | _a1552-4833 | ||
| 024 | 7 |
_a10.1002/ajmg.a.36166 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aPinson, Lucile | |
| 245 | 0 | 0 |
_aCEP57 mutation in a girl with mosaic variegated aneuploidy syndrome. _h[electronic resource] |
| 260 |
_bAmerican journal of medical genetics. Part A _cJan 2014 |
||
| 300 |
_a177-81 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 | _aAneuploidy |
| 650 | 0 | 4 | _aChild, Preschool |
| 650 | 0 | 4 |
_aChromosome Disorders _xdiagnosis |
| 650 | 0 | 4 | _aConsanguinity |
| 650 | 0 | 4 | _aDNA Mutational Analysis |
| 650 | 0 | 4 | _aFacies |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 |
_aMicrotubule-Associated Proteins _xgenetics |
| 650 | 0 | 4 | _aMosaicism |
| 650 | 0 | 4 | _aMutation |
| 650 | 0 | 4 |
_aNuclear Proteins _xgenetics |
| 650 | 0 | 4 | _aPedigree |
| 650 | 0 | 4 | _aPhenotype |
| 700 | 1 | _aMannini, Linda | |
| 700 | 1 | _aWillems, Marjolaine | |
| 700 | 1 | _aCucco, Francesco | |
| 700 | 1 | _aSirvent, Nicolas | |
| 700 | 1 | _aFrebourg, Thierry | |
| 700 | 1 | _aQuarantotti, Valentina | |
| 700 | 1 | _aCollet, Corinne | |
| 700 | 1 | _aSchneider, Anouck | |
| 700 | 1 | _aSarda, Pierre | |
| 700 | 1 | _aGeneviève, David | |
| 700 | 1 | _aPuechberty, Jacques | |
| 700 | 1 | _aLefort, Geneviève | |
| 700 | 1 | _aMusio, Antonio | |
| 773 | 0 |
_tAmerican journal of medical genetics. Part A _gvol. 164A _gno. 1 _gp. 177-81 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1002/ajmg.a.36166 _zAvailable from publisher's website |
| 999 |
_c23291476 _d23291476 |
||