| 000 | 01624 a2200481 4500 | ||
|---|---|---|---|
| 005 | 20250517122543.0 | ||
| 264 | 0 | _c20170705 | |
| 008 | 201707s 0 0 eng d | ||
| 022 | _a1476-5438 | ||
| 024 | 7 |
_a10.1038/ejhg.2016.144 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aBaumann, Matthias | |
| 245 | 0 | 0 |
_aHomozygous SYNE1 mutation causes congenital onset of muscular weakness with distal arthrogryposis: a genotype-phenotype correlation. _h[electronic resource] |
| 260 |
_bEuropean journal of human genetics : EJHG _c02 2017 |
||
| 300 |
_a262-266 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article | ||
| 650 | 0 | 4 |
_aArthrogryposis _xdiagnosis |
| 650 | 0 | 4 | _aChild |
| 650 | 0 | 4 | _aCodon, Nonsense |
| 650 | 0 | 4 | _aCytoskeletal Proteins |
| 650 | 0 | 4 | _aGenotype |
| 650 | 0 | 4 | _aHomozygote |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 |
_aMuscle Weakness _xdiagnosis |
| 650 | 0 | 4 |
_aMuscle, Skeletal _xmetabolism |
| 650 | 0 | 4 |
_aNerve Tissue Proteins _xgenetics |
| 650 | 0 | 4 |
_aNuclear Proteins _xgenetics |
| 650 | 0 | 4 | _aPedigree |
| 650 | 0 | 4 | _aPhenotype |
| 650 | 0 | 4 | _aSyndrome |
| 700 | 1 | _aSteichen-Gersdorf, Elisabeth | |
| 700 | 1 | _aKrabichler, Birgit | |
| 700 | 1 | _aPetersen, Britt-Sabina | |
| 700 | 1 | _aWeber, Ulrike | |
| 700 | 1 | _aSchmidt, Wolfgang M | |
| 700 | 1 | _aZschocke, Johannes | |
| 700 | 1 | _aMüller, Thomas | |
| 700 | 1 | _aBittner, Reginald E | |
| 700 | 1 | _aJanecke, Andreas R | |
| 773 | 0 |
_tEuropean journal of human genetics : EJHG _gvol. 25 _gno. 2 _gp. 262-266 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1038/ejhg.2016.144 _zAvailable from publisher's website |
| 999 |
_c26550323 _d26550323 |
||