| 000 | 01570 a2200469 4500 | ||
|---|---|---|---|
| 005 | 20250517213324.0 | ||
| 264 | 0 | _c20190228 | |
| 008 | 201902s 0 0 eng d | ||
| 022 | _a1476-5438 | ||
| 024 | 7 |
_a10.1038/s41431-018-0146-y _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aBrock, Stefanie | |
| 245 | 0 | 0 |
_aTubulinopathies continued: refining the phenotypic spectrum associated with variants in TUBG1. _h[electronic resource] |
| 260 |
_bEuropean journal of human genetics : EJHG _c08 2018 |
||
| 300 |
_a1132-1142 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 | _aAdolescent |
| 650 | 0 | 4 | _aAdult |
| 650 | 0 | 4 |
_aBrain _xdiagnostic imaging |
| 650 | 0 | 4 | _aChild |
| 650 | 0 | 4 |
_aCognitive Dysfunction _xgenetics |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aHeterozygote |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 |
_aLissencephaly _xgenetics |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 |
_aMicrocephaly _xgenetics |
| 650 | 0 | 4 | _aMutation, Missense |
| 650 | 0 | 4 | _aPhenotype |
| 650 | 0 | 4 | _aSyndrome |
| 650 | 0 | 4 |
_aTubulin _xchemistry |
| 700 | 1 | _aStouffs, Katrien | |
| 700 | 1 | _aScalais, Emmanuel | |
| 700 | 1 | _aD'Hooghe, Marc | |
| 700 | 1 | _aKeymolen, Kathelijn | |
| 700 | 1 | _aGuerrini, Renzo | |
| 700 | 1 | _aDobyns, William B | |
| 700 | 1 | _aDi Donato, Nataliya | |
| 700 | 1 | _aJansen, Anna C | |
| 773 | 0 |
_tEuropean journal of human genetics : EJHG _gvol. 26 _gno. 8 _gp. 1132-1142 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1038/s41431-018-0146-y _zAvailable from publisher's website |
| 999 |
_c28337657 _d28337657 |
||