| 000 | 02377 a2200745 4500 | ||
|---|---|---|---|
| 005 | 20250517193800.0 | ||
| 264 | 0 | _c20181102 | |
| 008 | 201811s 0 0 eng d | ||
| 022 | _a1756-994X | ||
| 024 | 7 |
_a10.1186/s13073-017-0510-5 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aKnaus, Alexej | |
| 245 | 0 | 0 |
_aCharacterization of glycosylphosphatidylinositol biosynthesis defects by clinical features, flow cytometry, and automated image analysis. _h[electronic resource] |
| 260 |
_bGenome medicine _c01 2018 |
||
| 300 |
_a3 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 |
_aAbnormalities, Multiple _xmetabolism |
| 650 | 0 | 4 | _aAutomation |
| 650 | 0 | 4 |
_aBiomarkers _xmetabolism |
| 650 | 0 | 4 |
_aFlow Cytometry _xmethods |
| 650 | 0 | 4 |
_aGlycosylphosphatidylinositols _xbiosynthesis |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aImage Processing, Computer-Assisted |
| 650 | 0 | 4 |
_aIntellectual Disability _xmetabolism |
| 650 | 0 | 4 | _aPhenotype |
| 650 | 0 | 4 |
_aPhosphorus Metabolism Disorders _xmetabolism |
| 650 | 0 | 4 | _aSyndrome |
| 700 | 1 | _aPantel, Jean Tori | |
| 700 | 1 | _aPendziwiat, Manuela | |
| 700 | 1 | _aHajjir, Nurulhuda | |
| 700 | 1 | _aZhao, Max | |
| 700 | 1 | _aHsieh, Tzung-Chien | |
| 700 | 1 | _aSchubach, Max | |
| 700 | 1 | _aGurovich, Yaron | |
| 700 | 1 | _aFleischer, Nicole | |
| 700 | 1 | _aJäger, Marten | |
| 700 | 1 | _aKöhler, Sebastian | |
| 700 | 1 | _aMuhle, Hiltrud | |
| 700 | 1 | _aKorff, Christian | |
| 700 | 1 | _aMøller, Rikke S | |
| 700 | 1 | _aBayat, Allan | |
| 700 | 1 | _aCalvas, Patrick | |
| 700 | 1 | _aChassaing, Nicolas | |
| 700 | 1 | _aWarren, Hannah | |
| 700 | 1 | _aSkinner, Steven | |
| 700 | 1 | _aLouie, Raymond | |
| 700 | 1 | _aEvers, Christina | |
| 700 | 1 | _aBohn, Marc | |
| 700 | 1 | _aChristen, Hans-Jürgen | |
| 700 | 1 | _avan den Born, Myrthe | |
| 700 | 1 | _aObersztyn, Ewa | |
| 700 | 1 | _aCharzewska, Agnieszka | |
| 700 | 1 | _aEndziniene, Milda | |
| 700 | 1 | _aKortüm, Fanny | |
| 700 | 1 | _aBrown, Natasha | |
| 700 | 1 | _aRobinson, Peter N | |
| 700 | 1 | _aSchelhaas, Helenius J | |
| 700 | 1 | _aWeber, Yvonne | |
| 700 | 1 | _aHelbig, Ingo | |
| 700 | 1 | _aMundlos, Stefan | |
| 700 | 1 | _aHorn, Denise | |
| 700 | 1 | _aKrawitz, Peter M | |
| 773 | 0 |
_tGenome medicine _gvol. 10 _gno. 1 _gp. 3 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1186/s13073-017-0510-5 _zAvailable from publisher's website |
| 999 |
_c27957424 _d27957424 |
||