| 000 | 01532 a2200481 4500 | ||
|---|---|---|---|
| 005 | 20250516210544.0 | ||
| 264 | 0 | _c20150805 | |
| 008 | 201508s 0 0 eng d | ||
| 022 | _a1476-5438 | ||
| 024 | 7 |
_a10.1038/ejhg.2014.58 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aWinston, Jincy | |
| 245 | 0 | 0 |
_aIdentification of two novel SMCHD1 sequence variants in families with FSHD-like muscular dystrophy. _h[electronic resource] |
| 260 |
_bEuropean journal of human genetics : EJHG _cJan 2015 |
||
| 300 |
_a67-71 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article | ||
| 650 | 0 | 4 | _aAdult |
| 650 | 0 | 4 | _aAmino Acid Sequence |
| 650 | 0 | 4 |
_aChromosomal Proteins, Non-Histone _xchemistry |
| 650 | 0 | 4 | _aDNA Methylation |
| 650 | 0 | 4 | _aDNA Mutational Analysis |
| 650 | 0 | 4 | _aFacies |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aGenetic Variation |
| 650 | 0 | 4 | _aGenotype |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 | _aMiddle Aged |
| 650 | 0 | 4 | _aMolecular Sequence Data |
| 650 | 0 | 4 |
_aMuscular Dystrophy, Facioscapulohumeral _xdiagnosis |
| 650 | 0 | 4 | _aMutation |
| 650 | 0 | 4 | _aPedigree |
| 650 | 0 | 4 | _aPhenotype |
| 650 | 0 | 4 | _aSequence Alignment |
| 650 | 0 | 4 | _aYoung Adult |
| 700 | 1 | _aDuerden, Laura | |
| 700 | 1 | _aMort, Matthew | |
| 700 | 1 | _aFrayling, Ian M | |
| 700 | 1 | _aRogers, Mark T | |
| 700 | 1 | _aUpadhyaya, Meena | |
| 773 | 0 |
_tEuropean journal of human genetics : EJHG _gvol. 23 _gno. 1 _gp. 67-71 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1038/ejhg.2014.58 _zAvailable from publisher's website |
| 999 |
_c23759683 _d23759683 |
||