| 000 | 01197 a2200361 4500 | ||
|---|---|---|---|
| 005 | 20250518000714.0 | ||
| 264 | 0 | _c20200120 | |
| 008 | 202001s 0 0 eng d | ||
| 022 | _a1878-0849 | ||
| 024 | 7 |
_a10.1016/j.ejmg.2018.09.011 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aIsik, Esra | |
| 245 | 0 | 0 |
_aBiallelic TOR1A mutations cause severe arthrogryposis: A case requiring reverse phenotyping. _h[electronic resource] |
| 260 |
_bEuropean journal of medical genetics _cSep 2019 |
||
| 300 |
_a103544 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article | ||
| 650 | 0 | 4 | _aAlleles |
| 650 | 0 | 4 |
_aArthrogryposis _xgenetics |
| 650 | 0 | 4 | _aCodon, Nonsense |
| 650 | 0 | 4 |
_aGenetic Testing _xmethods |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aInfant |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 |
_aMolecular Chaperones _xgenetics |
| 650 | 0 | 4 | _aPenetrance |
| 650 | 0 | 4 | _aExome Sequencing |
| 700 | 1 | _aAykut, Ayca | |
| 700 | 1 | _aAtik, Tahir | |
| 700 | 1 | _aCogulu, Ozgur | |
| 700 | 1 | _aOzkinay, Ferda | |
| 773 | 0 |
_tEuropean journal of medical genetics _gvol. 62 _gno. 9 _gp. 103544 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1016/j.ejmg.2018.09.011 _zAvailable from publisher's website |
| 999 |
_c28863824 _d28863824 |
||