| 000 | 01507 a2200469 4500 | ||
|---|---|---|---|
| 005 | 20250516145508.0 | ||
| 264 | 0 | _c20150330 | |
| 008 | 201503s 0 0 eng d | ||
| 022 | _a1750-1172 | ||
| 024 | 7 |
_a10.1186/1750-1172-8-62 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aBeaulieu, Chandree L | |
| 245 | 0 | 0 |
_aIntellectual disability associated with a homozygous missense mutation in THOC6. _h[electronic resource] |
| 260 |
_bOrphanet journal of rare diseases _cApr 2013 |
||
| 300 |
_a62 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 | _aAnimals |
| 650 | 0 | 4 |
_aExome _xgenetics |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aIn Situ Hybridization |
| 650 | 0 | 4 |
_aIntellectual Disability _xgenetics |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 |
_aMutation, Missense _xgenetics |
| 650 | 0 | 4 | _aZebrafish |
| 700 | 1 | _aHuang, Lijia | |
| 700 | 1 | _aInnes, A Micheil | |
| 700 | 1 | _aAkimenko, Marie-Andree | |
| 700 | 1 | _aPuffenberger, Erik G | |
| 700 | 1 | _aSchwartz, Charles | |
| 700 | 1 | _aJerry, Paul | |
| 700 | 1 | _aOber, Carole | |
| 700 | 1 | _aHegele, Robert A | |
| 700 | 1 | _aMcLeod, D Ross | |
| 700 | 1 | _aSchwartzentruber, Jeremy | |
| 700 | 1 | _aMajewski, Jacek | |
| 700 | 1 | _aBulman, Dennis E | |
| 700 | 1 | _aParboosingh, Jillian S | |
| 700 | 1 | _aBoycott, Kym M | |
| 773 | 0 |
_tOrphanet journal of rare diseases _gvol. 8 _gp. 62 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1186/1750-1172-8-62 _zAvailable from publisher's website |
| 999 |
_c22703711 _d22703711 |
||