| 000 | 01732 a2200541 4500 | ||
|---|---|---|---|
| 005 | 20250514160641.0 | ||
| 264 | 0 | _c20040819 | |
| 008 | 200408s 0 0 eng d | ||
| 022 | _a0002-9297 | ||
| 024 | 7 |
_a10.1086/379524 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _avan der Knaap, Marjo S | |
| 245 | 0 | 0 |
_aeIF2B-related disorders: antenatal onset and involvement of multiple organs. _h[electronic resource] |
| 260 |
_bAmerican journal of human genetics _cNov 2003 |
||
| 300 |
_a1199-207 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 |
_aAbnormalities, Multiple _xgenetics |
| 650 | 0 | 4 | _aAge of Onset |
| 650 | 0 | 4 | _aAmino Acid Sequence |
| 650 | 0 | 4 | _aAnimals |
| 650 | 0 | 4 |
_aBrain _xabnormalities |
| 650 | 0 | 4 |
_aBrain Diseases _xcomplications |
| 650 | 0 | 4 | _aDNA Mutational Analysis |
| 650 | 0 | 4 |
_aEukaryotic Initiation Factor-2B _xchemistry |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aGenotype |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aInfant |
| 650 | 0 | 4 | _aInfant, Newborn |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 |
_aMutation _xgenetics |
| 650 | 0 | 4 | _aOrgan Specificity |
| 650 | 0 | 4 | _aPhenotype |
| 700 | 1 | _avan Berkel, Carola G M | |
| 700 | 1 | _aHerms, Jochen | |
| 700 | 1 | _avan Coster, Rudy | |
| 700 | 1 | _aBaethmann, Martina | |
| 700 | 1 | _aNaidu, Sakkubai | |
| 700 | 1 | _aBoltshauser, Eugen | |
| 700 | 1 | _aWillemsen, Michèl A A P | |
| 700 | 1 | _aPlecko, Barbara | |
| 700 | 1 | _aHoffmann, Georg F | |
| 700 | 1 | _aProud, Christopher G | |
| 700 | 1 | _aScheper, Gert C | |
| 700 | 1 | _aPronk, Jan C | |
| 773 | 0 |
_tAmerican journal of human genetics _gvol. 73 _gno. 5 _gp. 1199-207 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1086/379524 _zAvailable from publisher's website |
| 999 |
_c14309408 _d14309408 |
||