| 000 | 01709 a2200481 4500 | ||
|---|---|---|---|
| 005 | 20250517080601.0 | ||
| 264 | 0 | _c20161219 | |
| 008 | 201612s 0 0 spa d | ||
| 022 | _a1576-6578 | ||
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aOrtiz-Madinaveitia, Saturnino | |
| 245 | 0 | 0 |
_a[Phenotypic variations in Aicardi-Goutieres syndrome caused by RNASEH2B gene mutations: report of two new cases]. _h[electronic resource] |
| 260 |
_bRevista de neurologia _cFeb 2016 |
||
| 300 |
_a165-9 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article | ||
| 650 | 0 | 4 |
_aAutoimmune Diseases of the Nervous System _xdiagnostic imaging |
| 650 | 0 | 4 |
_aBasal Ganglia _xdiagnostic imaging |
| 650 | 0 | 4 |
_aBiopterins _xcerebrospinal fluid |
| 650 | 0 | 4 |
_aCalcinosis _xetiology |
| 650 | 0 | 4 |
_aFeeding and Eating Disorders of Childhood _xgenetics |
| 650 | 0 | 4 | _aGenetic Association Studies |
| 650 | 0 | 4 | _aHeterozygote |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aInfant |
| 650 | 0 | 4 |
_aIntellectual Disability _xgenetics |
| 650 | 0 | 4 | _aMagnetic Resonance Imaging |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 |
_aMuscle Spasticity _xgenetics |
| 650 | 0 | 4 | _aMutation, Missense |
| 650 | 0 | 4 |
_aNeopterin _xcerebrospinal fluid |
| 650 | 0 | 4 |
_aNervous System Malformations _xdiagnostic imaging |
| 650 | 0 | 4 | _aNeuroimaging |
| 650 | 0 | 4 | _aPhenotype |
| 650 | 0 | 4 |
_aRibonuclease H _xdeficiency |
| 650 | 0 | 4 | _aSequence Analysis, DNA |
| 700 | 1 | _aConejo-Moreno, David | |
| 700 | 1 | _aLópez-Pisón, Javier | |
| 700 | 1 | _aPeña-Segura, José Luis | |
| 700 | 1 | _aSerrano-Madrid, M Luisa | |
| 700 | 1 | _aDurán-Palacios, Ingrid C | |
| 700 | 1 | _aPeláez-Cabo, Pilar | |
| 773 | 0 |
_tRevista de neurologia _gvol. 62 _gno. 4 _gp. 165-9 |
|
| 999 |
_c25717511 _d25717511 |
||