| 000 | 02892 a2200925 4500 | ||
|---|---|---|---|
| 005 | 20250516180750.0 | ||
| 264 | 0 | _c20131230 | |
| 008 | 201312s 0 0 eng d | ||
| 022 | _a1537-6605 | ||
| 024 | 7 |
_a10.1016/j.ajhg.2013.09.017 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aSuls, Arvid | |
| 245 | 0 | 0 |
_aDe novo loss-of-function mutations in CHD2 cause a fever-sensitive myoclonic epileptic encephalopathy sharing features with Dravet syndrome. _h[electronic resource] |
| 260 |
_bAmerican journal of human genetics _cNov 2013 |
||
| 300 |
_a967-75 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 | _aAnimals |
| 650 | 0 | 4 | _aChild |
| 650 | 0 | 4 |
_aCognition Disorders _xgenetics |
| 650 | 0 | 4 | _aCohort Studies |
| 650 | 0 | 4 |
_aDNA-Binding Proteins _xgenetics |
| 650 | 0 | 4 |
_aEpilepsies, Myoclonic _xgenetics |
| 650 | 0 | 4 | _aExome |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aGene Knockdown Techniques |
| 650 | 0 | 4 | _aHaploinsufficiency |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 |
_aIntellectual Disability _xgenetics |
| 650 | 0 | 4 |
_aLarva _xgenetics |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 |
_aNAV1.1 Voltage-Gated Sodium Channel _xgenetics |
| 650 | 0 | 4 | _aPhenotype |
| 650 | 0 | 4 |
_aSeizures, Febrile _xgenetics |
| 650 | 0 | 4 | _aYoung Adult |
| 650 | 0 | 4 | _aZebrafish |
| 700 | 1 | _aJaehn, Johanna A | |
| 700 | 1 | _aKecskés, Angela | |
| 700 | 1 | _aWeber, Yvonne | |
| 700 | 1 | _aWeckhuysen, Sarah | |
| 700 | 1 | _aCraiu, Dana C | |
| 700 | 1 | _aSiekierska, Aleksandra | |
| 700 | 1 | _aDjémié, Tania | |
| 700 | 1 | _aAfrikanova, Tatiana | |
| 700 | 1 | _aGormley, Padhraig | |
| 700 | 1 | _avon Spiczak, Sarah | |
| 700 | 1 | _aKluger, Gerhard | |
| 700 | 1 | _aIliescu, Catrinel M | |
| 700 | 1 | _aTalvik, Tiina | |
| 700 | 1 | _aTalvik, Inga | |
| 700 | 1 | _aMeral, Cihan | |
| 700 | 1 | _aCaglayan, Hande S | |
| 700 | 1 | _aGiraldez, Beatriz G | |
| 700 | 1 | _aSerratosa, José | |
| 700 | 1 | _aLemke, Johannes R | |
| 700 | 1 | _aHoffman-Zacharska, Dorota | |
| 700 | 1 | _aSzczepanik, Elzbieta | |
| 700 | 1 | _aBarisic, Nina | |
| 700 | 1 | _aKomarek, Vladimir | |
| 700 | 1 | _aHjalgrim, Helle | |
| 700 | 1 | _aMøller, Rikke S | |
| 700 | 1 | _aLinnankivi, Tarja | |
| 700 | 1 | _aDimova, Petia | |
| 700 | 1 | _aStriano, Pasquale | |
| 700 | 1 | _aZara, Federico | |
| 700 | 1 | _aMarini, Carla | |
| 700 | 1 | _aGuerrini, Renzo | |
| 700 | 1 | _aDepienne, Christel | |
| 700 | 1 | _aBaulac, Stéphanie | |
| 700 | 1 | _aKuhlenbäumer, Gregor | |
| 700 | 1 | _aCrawford, Alexander D | |
| 700 | 1 | _aLehesjoki, Anna-Elina | |
| 700 | 1 | _ade Witte, Peter A M | |
| 700 | 1 | _aPalotie, Aarno | |
| 700 | 1 | _aLerche, Holger | |
| 700 | 1 | _aEsguerra, Camila V | |
| 700 | 1 | _aDe Jonghe, Peter | |
| 700 | 1 | _aHelbig, Ingo | |
| 773 | 0 |
_tAmerican journal of human genetics _gvol. 93 _gno. 5 _gp. 967-75 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1016/j.ajhg.2013.09.017 _zAvailable from publisher's website |
| 999 |
_c23245709 _d23245709 |
||