| 000 | 01525 a2200445 4500 | ||
|---|---|---|---|
| 005 | 20250516171233.0 | ||
| 264 | 0 | _c20140616 | |
| 008 | 201406s 0 0 eng d | ||
| 022 | _a1098-1004 | ||
| 024 | 7 |
_a10.1002/humu.22430 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aMannini, Linda | |
| 245 | 0 | 0 |
_aMutation spectrum and genotype-phenotype correlation in Cornelia de Lange syndrome. _h[electronic resource] |
| 260 |
_bHuman mutation _cDec 2013 |
||
| 300 |
_a1589-96 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article; Research Support, N.I.H., Extramural; Review | ||
| 650 | 0 | 4 |
_aCell Cycle Proteins _xgenetics |
| 650 | 0 | 4 |
_aChondroitin Sulfate Proteoglycans _xgenetics |
| 650 | 0 | 4 |
_aChromosomal Proteins, Non-Histone _xgenetics |
| 650 | 0 | 4 | _aDNA-Binding Proteins |
| 650 | 0 | 4 |
_aDe Lange Syndrome _xdiagnosis |
| 650 | 0 | 4 | _aFacies |
| 650 | 0 | 4 | _aGene Expression |
| 650 | 0 | 4 | _aGenetic Association Studies |
| 650 | 0 | 4 | _aGenotype |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aMutation |
| 650 | 0 | 4 |
_aNuclear Proteins _xgenetics |
| 650 | 0 | 4 | _aPhenotype |
| 650 | 0 | 4 |
_aPhosphoproteins _xgenetics |
| 650 | 0 | 4 |
_aProteins _xgenetics |
| 650 | 0 | 4 | _aCohesins |
| 650 | 0 | 4 | _aStructural Maintenance of Chromosome Protein 1 |
| 700 | 1 | _aCucco, Francesco | |
| 700 | 1 | _aQuarantotti, Valentina | |
| 700 | 1 | _aKrantz, Ian D | |
| 700 | 1 | _aMusio, Antonio | |
| 773 | 0 |
_tHuman mutation _gvol. 34 _gno. 12 _gp. 1589-96 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1002/humu.22430 _zAvailable from publisher's website |
| 999 |
_c23091013 _d23091013 |
||