000 | 02280 a2200721 4500 | ||
---|---|---|---|
005 | 20250516151838.0 | ||
264 | 0 | _c20140102 | |
008 | 201401s 0 0 eng d | ||
022 | _a1750-1172 | ||
024 | 7 |
_a10.1186/1750-1172-8-80 _2doi |
|
040 |
_aNLM _beng _cNLM |
||
100 | 1 | _aMilh, Mathieu | |
245 | 0 | 0 |
_aSimilar early characteristics but variable neurological outcome of patients with a de novo mutation of KCNQ2. _h[electronic resource] |
260 |
_bOrphanet journal of rare diseases _cMay 2013 |
||
300 |
_a80 p. _bdigital |
||
500 | _aPublication Type: Journal Article; Research Support, Non-U.S. Gov't | ||
650 | 0 | 4 |
_aBrain _xdiagnostic imaging |
650 | 0 | 4 | _aElectroencephalography |
650 | 0 | 4 |
_aEpilepsy _xgenetics |
650 | 0 | 4 |
_aEpilepsy, Benign Neonatal _xdiagnosis |
650 | 0 | 4 | _aFemale |
650 | 0 | 4 | _aGenetic Predisposition to Disease |
650 | 0 | 4 | _aHumans |
650 | 0 | 4 | _aInfant |
650 | 0 | 4 |
_aKCNQ2 Potassium Channel _xgenetics |
650 | 0 | 4 | _aMagnetic Resonance Imaging |
650 | 0 | 4 | _aMale |
650 | 0 | 4 | _aMutation |
650 | 0 | 4 | _aPhenotype |
650 | 0 | 4 | _aRadiography |
700 | 1 | _aBoutry-Kryza, Nadia | |
700 | 1 | _aSutera-Sardo, Julie | |
700 | 1 | _aMignot, Cyril | |
700 | 1 | _aAuvin, Stéphane | |
700 | 1 | _aLacoste, Caroline | |
700 | 1 | _aVilleneuve, Nathalie | |
700 | 1 | _aRoubertie, Agathe | |
700 | 1 | _aHeron, Bénédicte | |
700 | 1 | _aCarneiro, Maryline | |
700 | 1 | _aKaminska, Anna | |
700 | 1 | _aAltuzarra, Cécilia | |
700 | 1 | _aBlanchard, Gaëlle | |
700 | 1 | _aVille, Dorothée | |
700 | 1 | _aBarthez, Marie Anne | |
700 | 1 | _aHeron, Delphine | |
700 | 1 | _aGras, Domitille | |
700 | 1 | _aAfenjar, Alexandra | |
700 | 1 | _aDorison, Nathalie | |
700 | 1 | _aDoummar, Dianne | |
700 | 1 | _aBillette de Villemeur, Thierry | |
700 | 1 | _aAn, Isabelle | |
700 | 1 | _aJacquette, Aurélia | |
700 | 1 | _aCharles, Perrine | |
700 | 1 | _aPerrier, Julie | |
700 | 1 | _aIsidor, Bertrand | |
700 | 1 | _aVercueil, Laurent | |
700 | 1 | _aChabrol, Brigitte | |
700 | 1 | _aBadens, Catherine | |
700 | 1 | _aLesca, Gaétan | |
700 | 1 | _aVillard, Laurent | |
773 | 0 |
_tOrphanet journal of rare diseases _gvol. 8 _gp. 80 |
|
856 | 4 | 0 |
_uhttps://doi.org/10.1186/1750-1172-8-80 _zAvailable from publisher's website |
999 |
_c22769369 _d22769369 |