| 000 | 02204 a2200637 4500 | ||
|---|---|---|---|
| 005 | 20250517021714.0 | ||
| 264 | 0 | _c20160224 | |
| 008 | 201602s 0 0 eng d | ||
| 022 | _a1468-6244 | ||
| 024 | 7 |
_a10.1136/jmedgenet-2014-102959 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aParrini, Elena | |
| 245 | 0 | 0 |
_aFamilial periventricular nodular heterotopia, epilepsy and Melnick-Needles Syndrome caused by a single FLNA mutation with combined gain-of-function and loss-of-function effects. _h[electronic resource] |
| 260 |
_bJournal of medical genetics _cJun 2015 |
||
| 300 |
_a405-12 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 | _aBase Sequence |
| 650 | 0 | 4 |
_aBone and Bones _xdiagnostic imaging |
| 650 | 0 | 4 |
_aBrain _xpathology |
| 650 | 0 | 4 | _aComputational Biology |
| 650 | 0 | 4 | _aDNA Mutational Analysis |
| 650 | 0 | 4 |
_aEpilepsy _xgenetics |
| 650 | 0 | 4 | _aExons |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 |
_aFilamins _xchemistry |
| 650 | 0 | 4 | _aGenes, X-Linked |
| 650 | 0 | 4 | _aGenetic Association Studies |
| 650 | 0 | 4 | _aHigh-Throughput Nucleotide Sequencing |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 |
_aLymphocytes _xmetabolism |
| 650 | 0 | 4 | _aMagnetic Resonance Imaging |
| 650 | 0 | 4 | _aMolecular Sequence Data |
| 650 | 0 | 4 | _aMutation |
| 650 | 0 | 4 | _aMutation, Missense |
| 650 | 0 | 4 | _aNonsense Mediated mRNA Decay |
| 650 | 0 | 4 |
_aOsteochondrodysplasias _xdiagnosis |
| 650 | 0 | 4 | _aPedigree |
| 650 | 0 | 4 |
_aPeriventricular Nodular Heterotopia _xdiagnosis |
| 650 | 0 | 4 | _aRNA Splicing |
| 650 | 0 | 4 | _aRadiography |
| 650 | 0 | 4 | _aSequence Alignment |
| 650 | 0 | 4 | _aSyndrome |
| 650 | 0 | 4 | _aX Chromosome Inactivation |
| 700 | 1 | _aMei, Davide | |
| 700 | 1 | _aPisanti, Maria Antonietta | |
| 700 | 1 | _aCatarzi, Serena | |
| 700 | 1 | _aPucatti, Daniela | |
| 700 | 1 | _aBianchini, Claudia | |
| 700 | 1 | _aMascalchi, Mario | |
| 700 | 1 | _aBertini, Enrico | |
| 700 | 1 | _aMorrone, Amelia | |
| 700 | 1 | _aCavaliere, Maria Luigia | |
| 700 | 1 | _aGuerrini, Renzo | |
| 773 | 0 |
_tJournal of medical genetics _gvol. 52 _gno. 6 _gp. 405-12 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1136/jmedgenet-2014-102959 _zAvailable from publisher's website |
| 999 |
_c24692494 _d24692494 |
||