| 000 | 02586 a2200769 4500 | ||
|---|---|---|---|
| 005 | 20250517034431.0 | ||
| 264 | 0 | _c20150817 | |
| 008 | 201508s 0 0 eng d | ||
| 022 | _a1537-6605 | ||
| 024 | 7 |
_a10.1016/j.ajhg.2015.04.020 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aDazzo, Emanuela | |
| 245 | 0 | 0 |
_aHeterozygous reelin mutations cause autosomal-dominant lateral temporal epilepsy. _h[electronic resource] |
| 260 |
_bAmerican journal of human genetics _cJun 2015 |
||
| 300 |
_a992-1000 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 | _aAnimals |
| 650 | 0 | 4 | _aBase Sequence |
| 650 | 0 | 4 |
_aCell Adhesion Molecules, Neuronal _xblood |
| 650 | 0 | 4 | _aChromosome Mapping |
| 650 | 0 | 4 |
_aEpilepsy, Frontal Lobe _xgenetics |
| 650 | 0 | 4 | _aExome |
| 650 | 0 | 4 |
_aExtracellular Matrix Proteins _xblood |
| 650 | 0 | 4 | _aFluorescent Antibody Technique |
| 650 | 0 | 4 | _aGene Components |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aImmunoblotting |
| 650 | 0 | 4 | _aIntercellular Signaling Peptides and Proteins |
| 650 | 0 | 4 | _aModels, Molecular |
| 650 | 0 | 4 | _aMolecular Sequence Data |
| 650 | 0 | 4 |
_aMutation, Missense _xgenetics |
| 650 | 0 | 4 |
_aNerve Tissue Proteins _xblood |
| 650 | 0 | 4 | _aPedigree |
| 650 | 0 | 4 |
_aPolymorphism, Single Nucleotide _xgenetics |
| 650 | 0 | 4 | _aProtein Conformation |
| 650 | 0 | 4 | _aProtein Folding |
| 650 | 0 | 4 |
_aProteins _xmetabolism |
| 650 | 0 | 4 | _aRats |
| 650 | 0 | 4 | _aReelin Protein |
| 650 | 0 | 4 | _aSequence Analysis, DNA |
| 650 | 0 | 4 |
_aSerine Endopeptidases _xblood |
| 650 | 0 | 4 |
_aSleep Wake Disorders _xgenetics |
| 700 | 1 | _aFanciulli, Manuela | |
| 700 | 1 | _aSerioli, Elena | |
| 700 | 1 | _aMinervini, Giovanni | |
| 700 | 1 | _aPulitano, Patrizia | |
| 700 | 1 | _aBinelli, Simona | |
| 700 | 1 | _aDi Bonaventura, Carlo | |
| 700 | 1 | _aLuisi, Concetta | |
| 700 | 1 | _aPasini, Elena | |
| 700 | 1 | _aStriano, Salvatore | |
| 700 | 1 | _aStriano, Pasquale | |
| 700 | 1 | _aCoppola, Giangennaro | |
| 700 | 1 | _aChiavegato, Angela | |
| 700 | 1 | _aRadovic, Slobodanka | |
| 700 | 1 | _aSpadotto, Alessandro | |
| 700 | 1 | _aUzzau, Sergio | |
| 700 | 1 | _aLa Neve, Angela | |
| 700 | 1 | _aGiallonardo, Anna Teresa | |
| 700 | 1 | _aMecarelli, Oriano | |
| 700 | 1 | _aTosatto, Silvio C E | |
| 700 | 1 | _aOttman, Ruth | |
| 700 | 1 | _aMichelucci, Roberto | |
| 700 | 1 | _aNobile, Carlo | |
| 773 | 0 |
_tAmerican journal of human genetics _gvol. 96 _gno. 6 _gp. 992-1000 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1016/j.ajhg.2015.04.020 _zAvailable from publisher's website |
| 999 |
_c24954717 _d24954717 |
||