| 000 | 01544 a2200457 4500 | ||
|---|---|---|---|
| 005 | 20250517151218.0 | ||
| 264 | 0 | _c20171201 | |
| 008 | 201712s 0 0 eng d | ||
| 022 | _a1552-4833 | ||
| 024 | 7 |
_a10.1002/ajmg.a.38235 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aVals, Mari-Anne | |
| 245 | 0 | 0 |
_aThree families with mild PMM2-CDG and normal cognitive development. _h[electronic resource] |
| 260 |
_bAmerican journal of medical genetics. Part A _cJun 2017 |
||
| 300 |
_a1620-1624 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article | ||
| 650 | 0 | 4 | _aAdolescent |
| 650 | 0 | 4 |
_aCerebellum _xabnormalities |
| 650 | 0 | 4 | _aChild |
| 650 | 0 | 4 | _aChild, Preschool |
| 650 | 0 | 4 |
_aCognition _xphysiology |
| 650 | 0 | 4 |
_aCongenital Disorders of Glycosylation _xdiagnostic imaging |
| 650 | 0 | 4 |
_aDevelopmental Disabilities _xdiagnostic imaging |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aGenotype |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aMagnetic Resonance Imaging |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 | _aMutation |
| 650 | 0 | 4 |
_aNervous System Malformations _xdiagnostic imaging |
| 650 | 0 | 4 | _aPhenotype |
| 650 | 0 | 4 |
_aPhosphotransferases (Phosphomutases) _xgenetics |
| 700 | 1 | _aMorava, Eva | |
| 700 | 1 | _aTeeäär, Kai | |
| 700 | 1 | _aZordania, Riina | |
| 700 | 1 | _aPajusalu, Sander | |
| 700 | 1 | _aLefeber, Dirk J | |
| 700 | 1 | _aÕunap, Katrin | |
| 773 | 0 |
_tAmerican journal of medical genetics. Part A _gvol. 173 _gno. 6 _gp. 1620-1624 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1002/ajmg.a.38235 _zAvailable from publisher's website |
| 999 |
_c27096191 _d27096191 |
||