| 000 | 01908 a2200625 4500 | ||
|---|---|---|---|
| 005 | 20250516085446.0 | ||
| 264 | 0 | _c20130314 | |
| 008 | 201303s 0 0 eng d | ||
| 022 | _a1460-2083 | ||
| 024 | 7 |
_a10.1093/hmg/dds123 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aTimal, Sharita | |
| 245 | 0 | 0 |
_aGene identification in the congenital disorders of glycosylation type I by whole-exome sequencing. _h[electronic resource] |
| 260 |
_bHuman molecular genetics _cOct 2012 |
||
| 300 |
_a4151-61 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 | _aAdolescent |
| 650 | 0 | 4 | _aChild |
| 650 | 0 | 4 | _aChild, Preschool |
| 650 | 0 | 4 | _aCohort Studies |
| 650 | 0 | 4 |
_aCongenital Disorders of Glycosylation _xgenetics |
| 650 | 0 | 4 | _aExome |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aGenome, Human |
| 650 | 0 | 4 | _aGlycosylation |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aInfant |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 | _aMolecular Sequence Data |
| 650 | 0 | 4 | _aMutation |
| 650 | 0 | 4 | _aPedigree |
| 650 | 0 | 4 |
_aProteins _xgenetics |
| 650 | 0 | 4 | _aSequence Analysis, DNA |
| 650 | 0 | 4 | _aYoung Adult |
| 700 | 1 | _aHoischen, Alexander | |
| 700 | 1 | _aLehle, Ludwig | |
| 700 | 1 | _aAdamowicz, Maciej | |
| 700 | 1 | _aHuijben, Karin | |
| 700 | 1 | _aSykut-Cegielska, Jolanta | |
| 700 | 1 | _aPaprocka, Justyna | |
| 700 | 1 | _aJamroz, Ewa | |
| 700 | 1 | _avan Spronsen, Francjan J | |
| 700 | 1 | _aKörner, Christian | |
| 700 | 1 | _aGilissen, Christian | |
| 700 | 1 | _aRodenburg, Richard J | |
| 700 | 1 | _aEidhof, Ilse | |
| 700 | 1 | _aVan den Heuvel, Lambert | |
| 700 | 1 | _aThiel, Christian | |
| 700 | 1 | _aWevers, Ron A | |
| 700 | 1 | _aMorava, Eva | |
| 700 | 1 | _aVeltman, Joris | |
| 700 | 1 | _aLefeber, Dirk J | |
| 773 | 0 |
_tHuman molecular genetics _gvol. 21 _gno. 19 _gp. 4151-61 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1093/hmg/dds123 _zAvailable from publisher's website |
| 999 |
_c21694676 _d21694676 |
||