| 000 | 01500 a2200457 4500 | ||
|---|---|---|---|
| 005 | 20250516114150.0 | ||
| 264 | 0 | _c20130726 | |
| 008 | 201307s 0 0 eng d | ||
| 022 | _a1098-1004 | ||
| 024 | 7 |
_a10.1002/humu.22235 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aDupuis, Nina | |
| 245 | 0 | 0 |
_aA novel RAB33B mutation in Smith-McCort dysplasia. _h[electronic resource] |
| 260 |
_bHuman mutation _cFeb 2013 |
||
| 300 |
_a283-6 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 |
_aDwarfism _xgenetics |
| 650 | 0 | 4 | _aExome |
| 650 | 0 | 4 |
_aGenetic Diseases, X-Linked _xgenetics |
| 650 | 0 | 4 | _aGenetic Heterogeneity |
| 650 | 0 | 4 |
_aGolgi Apparatus _xgenetics |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 |
_aIntellectual Disability _xgenetics |
| 650 | 0 | 4 | _aIntracellular Signaling Peptides and Proteins |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 | _aMutation |
| 650 | 0 | 4 |
_aOsteochondrodysplasias _xcongenital |
| 650 | 0 | 4 | _aPhenotype |
| 650 | 0 | 4 |
_aProteins _xgenetics |
| 650 | 0 | 4 | _aSequence Analysis |
| 650 | 0 | 4 | _aYoung Adult |
| 650 | 0 | 4 |
_arab GTP-Binding Proteins _xgenetics |
| 700 | 1 | _aLebon, Sophie | |
| 700 | 1 | _aKumar, Manoj | |
| 700 | 1 | _aDrunat, Séverine | |
| 700 | 1 | _aGraul-Neumann, Luitgard M | |
| 700 | 1 | _aGressens, Pierre | |
| 700 | 1 | _aEl Ghouzzi, Vincent | |
| 773 | 0 |
_tHuman mutation _gvol. 34 _gno. 2 _gp. 283-6 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1002/humu.22235 _zAvailable from publisher's website |
| 999 |
_c22164264 _d22164264 |
||