| 000 | 01878 a2200589 4500 | ||
|---|---|---|---|
| 005 | 20250517045129.0 | ||
| 264 | 0 | _c20160829 | |
| 008 | 201608s 0 0 eng d | ||
| 022 | _a1096-7206 | ||
| 024 | 7 |
_a10.1016/j.ymgme.2015.07.003 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aRymen, Daisy | |
| 245 | 0 | 0 |
_aKey features and clinical variability of COG6-CDG. _h[electronic resource] |
| 260 |
_bMolecular genetics and metabolism _cNov 2015 |
||
| 300 |
_a163-70 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 |
_aAdaptor Proteins, Vesicular Transport _xgenetics |
| 650 | 0 | 4 | _aAdolescent |
| 650 | 0 | 4 | _aChild |
| 650 | 0 | 4 |
_aCongenital Disorders of Glycosylation _xcomplications |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aGenetic Association Studies |
| 650 | 0 | 4 | _aGlycosylation |
| 650 | 0 | 4 |
_aGolgi Apparatus _xgenetics |
| 650 | 0 | 4 | _aHigh-Throughput Nucleotide Sequencing |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aInfant |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 |
_aMicrocephaly _xetiology |
| 650 | 0 | 4 | _aMolecular Sequence Data |
| 650 | 0 | 4 | _aMutation |
| 650 | 0 | 4 | _aPhenotype |
| 650 | 0 | 4 | _aYoung Adult |
| 700 | 1 | _aWinter, Julia | |
| 700 | 1 | _aVan Hasselt, Peter M | |
| 700 | 1 | _aJaeken, Jaak | |
| 700 | 1 | _aKasapkara, Cigdem | |
| 700 | 1 | _aGokçay, Gulden | |
| 700 | 1 | _aHaijes, Hanneke | |
| 700 | 1 | _aGoyens, Philippe | |
| 700 | 1 | _aTokatli, Aysegul | |
| 700 | 1 | _aThiel, Christian | |
| 700 | 1 | _aBartsch, Oliver | |
| 700 | 1 | _aHecht, Jochen | |
| 700 | 1 | _aKrawitz, Peter | |
| 700 | 1 | _aPrinsen, Hubertus C M T | |
| 700 | 1 | _aMildenberger, Eva | |
| 700 | 1 | _aMatthijs, Gert | |
| 700 | 1 | _aKornak, Uwe | |
| 773 | 0 |
_tMolecular genetics and metabolism _gvol. 116 _gno. 3 _gp. 163-70 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1016/j.ymgme.2015.07.003 _zAvailable from publisher's website |
| 999 |
_c25156452 _d25156452 |
||