| 000 | 01636 a2200433 4500 | ||
|---|---|---|---|
| 005 | 20250517191040.0 | ||
| 264 | 0 | _c20180702 | |
| 008 | 201807s 0 0 eng d | ||
| 022 | _a1532-2130 | ||
| 024 | 7 |
_a10.1016/j.ejpn.2017.11.003 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aSchmelzer, Lisa | |
| 245 | 0 | 0 |
_aVariable clinical phenotype in two siblings with Aicardi-Goutières syndrome type 6 and a novel mutation in the ADAR gene. _h[electronic resource] |
| 260 |
_bEuropean journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society _cJan 2018 |
||
| 300 |
_a186-189 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article | ||
| 650 | 0 | 4 |
_aAdenosine Deaminase _xgenetics |
| 650 | 0 | 4 | _aAdolescent |
| 650 | 0 | 4 |
_aAutoimmune Diseases of the Nervous System _xdiagnosis |
| 650 | 0 | 4 | _aChild, Preschool |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 | _aMutation |
| 650 | 0 | 4 |
_aNervous System Malformations _xdiagnosis |
| 650 | 0 | 4 | _aPhenotype |
| 650 | 0 | 4 |
_aRNA-Binding Proteins _xgenetics |
| 700 | 1 | _aSmitka, Martin | |
| 700 | 1 | _aWolf, Christine | |
| 700 | 1 | _aLucas, Nadja | |
| 700 | 1 | _aTüngler, Victoria | |
| 700 | 1 | _aHahn, Gabriele | |
| 700 | 1 | _aTzschach, Andreas | |
| 700 | 1 | _aDi Donato, Nataliya | |
| 700 | 1 | _aLee-Kirsch, Min Ae | |
| 700 | 1 | _avon der Hagen, Maja | |
| 773 | 0 |
_tEuropean journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society _gvol. 22 _gno. 1 _gp. 186-189 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1016/j.ejpn.2017.11.003 _zAvailable from publisher's website |
| 999 |
_c27870657 _d27870657 |
||