| 000 | 01779 a2200469 4500 | ||
|---|---|---|---|
| 005 | 20250516231628.0 | ||
| 264 | 0 | _c20150727 | |
| 008 | 201507s 0 0 eng d | ||
| 022 | _a1552-4876 | ||
| 024 | 7 |
_a10.1002/ajmg.c.31412 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aCampeau, Philippe M | |
| 245 | 0 | 0 |
_aDOORS syndrome: phenotype, genotype and comparison with Coffin-Siris syndrome. _h[electronic resource] |
| 260 |
_bAmerican journal of medical genetics. Part C, Seminars in medical genetics _cSep 2014 |
||
| 300 |
_a327-32 p. _bdigital |
||
| 500 | _aPublication Type: Comparative Study; Journal Article | ||
| 650 | 0 | 4 |
_aAbnormalities, Multiple _xetiology |
| 650 | 0 | 4 |
_aCarrier Proteins _xgenetics |
| 650 | 0 | 4 |
_aChromosomal Proteins, Non-Histone _xgenetics |
| 650 | 0 | 4 |
_aCraniofacial Abnormalities _xetiology |
| 650 | 0 | 4 |
_aDNA-Binding Proteins _xgenetics |
| 650 | 0 | 4 | _aExome |
| 650 | 0 | 4 |
_aFace _xabnormalities |
| 650 | 0 | 4 | _aGTPase-Activating Proteins |
| 650 | 0 | 4 | _aGenetic Association Studies |
| 650 | 0 | 4 |
_aHand Deformities, Congenital _xetiology |
| 650 | 0 | 4 |
_aHearing Loss, Sensorineural _xetiology |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 |
_aIntellectual Disability _xetiology |
| 650 | 0 | 4 | _aMembrane Proteins |
| 650 | 0 | 4 |
_aMicrognathism _xetiology |
| 650 | 0 | 4 | _aMutation |
| 650 | 0 | 4 |
_aNails, Malformed _xetiology |
| 650 | 0 | 4 |
_aNeck _xabnormalities |
| 650 | 0 | 4 | _aNerve Tissue Proteins |
| 650 | 0 | 4 | _aSMARCB1 Protein |
| 650 | 0 | 4 |
_aSeizures _xgenetics |
| 650 | 0 | 4 |
_aTranscription Factors _xgenetics |
| 700 | 1 | _aHennekam, Raoul C | |
| 773 | 0 |
_tAmerican journal of medical genetics. Part C, Seminars in medical genetics _gvol. 166C _gno. 3 _gp. 327-32 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1002/ajmg.c.31412 _zAvailable from publisher's website |
| 999 |
_c24141822 _d24141822 |
||