| 000 | 01743 a2200505 4500 | ||
|---|---|---|---|
| 005 | 20250518023503.0 | ||
| 264 | 0 | _c20200930 | |
| 008 | 202009s 0 0 eng d | ||
| 022 | _a1878-0849 | ||
| 024 | 7 |
_a10.1016/j.ejmg.2019.02.002 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aKameli, Reyhaneh | |
| 245 | 0 | 0 |
_aLeukoencephalopathy in RIN2 syndrome: Novel mutation and expansion of clinical spectrum. _h[electronic resource] |
| 260 |
_bEuropean journal of medical genetics _cJan 2020 |
||
| 300 |
_a103629 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article | ||
| 650 | 0 | 4 | _aAdult |
| 650 | 0 | 4 |
_aAlopecia _xcomplications |
| 650 | 0 | 4 |
_aCarrier Proteins _xgenetics |
| 650 | 0 | 4 | _aChild, Preschool |
| 650 | 0 | 4 |
_aConnective Tissue Diseases _xcomplications |
| 650 | 0 | 4 |
_aCutis Laxa _xcomplications |
| 650 | 0 | 4 |
_aFace _xdiagnostic imaging |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 |
_aFrameshift Mutation _xgenetics |
| 650 | 0 | 4 | _aGenetic Predisposition to Disease |
| 650 | 0 | 4 |
_aGuanine Nucleotide Exchange Factors _xgenetics |
| 650 | 0 | 4 | _aHomozygote |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 |
_aLeukoencephalopathies _xcomplications |
| 650 | 0 | 4 | _aMagnetic Resonance Imaging |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 |
_aMegalencephaly _xcomplications |
| 650 | 0 | 4 | _aPedigree |
| 650 | 0 | 4 |
_aScoliosis _xcomplications |
| 650 | 0 | 4 |
_aWhite Matter _xabnormalities |
| 700 | 1 | _aAshrafi, Mahmoud Reza | |
| 700 | 1 | _aEhya, Farveh | |
| 700 | 1 | _aAlizadeh, Houman | |
| 700 | 1 | _aHosseinpour, Sareh | |
| 700 | 1 | _aGarshasbi, Masoud | |
| 700 | 1 | _aTavasoli, Ali Reza | |
| 773 | 0 |
_tEuropean journal of medical genetics _gvol. 63 _gno. 1 _gp. 103629 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1016/j.ejmg.2019.02.002 _zAvailable from publisher's website |
| 999 |
_c29377569 _d29377569 |
||