| 000 | 02451 a2200805 4500 | ||
|---|---|---|---|
| 005 | 20250517040855.0 | ||
| 264 | 0 | _c20160531 | |
| 008 | 201605s 0 0 eng d | ||
| 022 | _a1460-2083 | ||
| 024 | 7 |
_a10.1093/hmg/ddv245 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aTan, Chuan | |
| 245 | 0 | 0 |
_aMutations of protocadherin 19 in female epilepsy (PCDH19-FE) lead to allopregnanolone deficiency. _h[electronic resource] |
| 260 |
_bHuman molecular genetics _cSep 2015 |
||
| 300 |
_a5250-9 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 |
_a3-Hydroxysteroid Dehydrogenases _xgenetics |
| 650 | 0 | 4 | _aAdolescent |
| 650 | 0 | 4 | _aAdult |
| 650 | 0 | 4 | _aAge of Onset |
| 650 | 0 | 4 | _aAldo-Keto Reductase Family 1 Member C3 |
| 650 | 0 | 4 |
_aCadherins _xgenetics |
| 650 | 0 | 4 | _aChild |
| 650 | 0 | 4 | _aChild, Preschool |
| 650 | 0 | 4 | _aCluster Analysis |
| 650 | 0 | 4 |
_aEpilepsy _xblood |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 |
_aFibroblasts _xmetabolism |
| 650 | 0 | 4 | _aGene Expression Profiling |
| 650 | 0 | 4 | _aGene Expression Regulation |
| 650 | 0 | 4 | _aGene Regulatory Networks |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 |
_aHydroxyprostaglandin Dehydrogenases _xgenetics |
| 650 | 0 | 4 | _aInfant |
| 650 | 0 | 4 | _aInfant, Newborn |
| 650 | 0 | 4 |
_aIntellectual Disability _xgenetics |
| 650 | 0 | 4 | _aMiddle Aged |
| 650 | 0 | 4 | _aMutation |
| 650 | 0 | 4 | _aPhenotype |
| 650 | 0 | 4 |
_aPregnanolone _xblood |
| 650 | 0 | 4 | _aProtocadherins |
| 650 | 0 | 4 | _aReproducibility of Results |
| 650 | 0 | 4 | _aSignal Transduction |
| 650 | 0 | 4 | _aYoung Adult |
| 700 | 1 | _aShard, Chloe | |
| 700 | 1 | _aRanieri, Enzo | |
| 700 | 1 | _aHynes, Kim | |
| 700 | 1 | _aPham, Duyen H | |
| 700 | 1 | _aLeach, Damian | |
| 700 | 1 | _aBuchanan, Grant | |
| 700 | 1 | _aCorbett, Mark | |
| 700 | 1 | _aShoubridge, Cheryl | |
| 700 | 1 | _aKumar, Raman | |
| 700 | 1 | _aDouglas, Evelyn | |
| 700 | 1 | _aNguyen, Lam S | |
| 700 | 1 | _aMcmahon, Jacinta | |
| 700 | 1 | _aSadleir, Lynette | |
| 700 | 1 | _aSpecchio, Nicola | |
| 700 | 1 | _aMarini, Carla | |
| 700 | 1 | _aGuerrini, Renzo | |
| 700 | 1 | _aMoller, Rikke S | |
| 700 | 1 | _aDepienne, Christel | |
| 700 | 1 | _aHaan, Eric | |
| 700 | 1 | _aThomas, Paul Q | |
| 700 | 1 | _aBerkovic, Samuel F | |
| 700 | 1 | _aScheffer, Ingrid E | |
| 700 | 1 | _aGecz, Jozef | |
| 773 | 0 |
_tHuman molecular genetics _gvol. 24 _gno. 18 _gp. 5250-9 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1093/hmg/ddv245 _zAvailable from publisher's website |
| 999 |
_c25028879 _d25028879 |
||