| 000 | 01085 a2200313 4500 | ||
|---|---|---|---|
| 005 | 20250516203724.0 | ||
| 264 | 0 | _c20150121 | |
| 008 | 201501s 0 0 eng d | ||
| 022 | _a1468-6244 | ||
| 024 | 7 |
_a10.1136/jmedgenet-2014-102329 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aHaijes, Hanneke | |
| 245 | 0 | 0 |
_aExpanding the clinical phenotype of COG6 deficiency. _h[electronic resource] |
| 260 |
_bJournal of medical genetics _cJun 2014 |
||
| 300 |
_a425 p. _bdigital |
||
| 500 | _aPublication Type: Letter; Comment | ||
| 650 | 0 | 4 |
_aAdaptor Proteins, Vesicular Transport _xdeficiency |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 |
_aHypohidrosis _xgenetics |
| 650 | 0 | 4 |
_aIntellectual Disability _xgenetics |
| 650 | 0 | 4 | _aMale |
| 700 | 1 | _aPrinsen, Hubertus C M T | |
| 700 | 1 | _aThiel, Christian | |
| 700 | 1 | _aKoerner, Christian | |
| 700 | 1 | _aVerhoeven-Duif, Nanda M | |
| 700 | 1 | _avan Hasselt, Peter M | |
| 773 | 0 |
_tJournal of medical genetics _gvol. 51 _gno. 6 _gp. 425 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1136/jmedgenet-2014-102329 _zAvailable from publisher's website |
| 999 |
_c23675024 _d23675024 |
||