| 000 | 01555 a2200445 4500 | ||
|---|---|---|---|
| 005 | 20250516174238.0 | ||
| 264 | 0 | _c20140724 | |
| 008 | 201407s 0 0 eng d | ||
| 022 | _a1873-2364 | ||
| 024 | 7 |
_a10.1016/j.nmd.2013.08.009 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aMitsuhashi, Satomi | |
| 245 | 0 | 0 |
_aExome sequencing identifies a novel SMCHD1 mutation in facioscapulohumeral muscular dystrophy 2. _h[electronic resource] |
| 260 |
_bNeuromuscular disorders : NMD _cDec 2013 |
||
| 300 |
_a975-80 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 | _aAdolescent |
| 650 | 0 | 4 |
_aChromosomal Proteins, Non-Histone _xgenetics |
| 650 | 0 | 4 |
_aCytokines _xmetabolism |
| 650 | 0 | 4 | _aDNA Mutational Analysis |
| 650 | 0 | 4 |
_aExome _xgenetics |
| 650 | 0 | 4 | _aFamily Health |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 |
_aMuscular Dystrophy, Facioscapulohumeral _xgenetics |
| 650 | 0 | 4 | _aPhenotype |
| 700 | 1 | _aBoyden, Steven E | |
| 700 | 1 | _aEstrella, Elicia A | |
| 700 | 1 | _aJones, Takako I | |
| 700 | 1 | _aRahimov, Fedik | |
| 700 | 1 | _aYu, Timothy W | |
| 700 | 1 | _aDarras, Basil T | |
| 700 | 1 | _aAmato, Anthony A | |
| 700 | 1 | _aFolkerth, Rebecca D | |
| 700 | 1 | _aJones, Peter L | |
| 700 | 1 | _aKunkel, Louis M | |
| 700 | 1 | _aKang, Peter B | |
| 773 | 0 |
_tNeuromuscular disorders : NMD _gvol. 23 _gno. 12 _gp. 975-80 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1016/j.nmd.2013.08.009 _zAvailable from publisher's website |
| 999 |
_c23174086 _d23174086 |
||