000 | 02067 a2200673 4500 | ||
---|---|---|---|
005 | 20250516235833.0 | ||
264 | 0 | _c20150922 | |
008 | 201509s 0 0 eng d | ||
022 | _a1460-2083 | ||
024 | 7 |
_a10.1093/hmg/ddu523 _2doi |
|
040 |
_aNLM _beng _cNLM |
||
100 | 1 | _aRamos-Brossier, Mariana | |
245 | 0 | 0 |
_aNovel IL1RAPL1 mutations associated with intellectual disability impair synaptogenesis. _h[electronic resource] |
260 |
_bHuman molecular genetics _cFeb 2015 |
||
300 |
_a1106-18 p. _bdigital |
||
500 | _aPublication Type: Journal Article; Research Support, Non-U.S. Gov't | ||
650 | 0 | 4 | _aAdult |
650 | 0 | 4 | _aChild |
650 | 0 | 4 | _aChild, Preschool |
650 | 0 | 4 | _aDNA Mutational Analysis |
650 | 0 | 4 | _aExons |
650 | 0 | 4 | _aFemale |
650 | 0 | 4 | _aHumans |
650 | 0 | 4 |
_aIntellectual Disability _xgenetics |
650 | 0 | 4 |
_aInterleukin-1 Receptor Accessory Protein _xchemistry |
650 | 0 | 4 | _aIntrons |
650 | 0 | 4 | _aMale |
650 | 0 | 4 | _aMutation |
650 | 0 | 4 |
_aNeurogenesis _xgenetics |
650 | 0 | 4 | _aPedigree |
650 | 0 | 4 | _aPolymorphism, Single Nucleotide |
650 | 0 | 4 | _aProtein Interaction Domains and Motifs |
650 | 0 | 4 | _aProtein Transport |
650 | 0 | 4 | _aSequence Deletion |
650 | 0 | 4 | _aSignal Transduction |
650 | 0 | 4 |
_aSynapses _xgenetics |
700 | 1 | _aMontani, Caterina | |
700 | 1 | _aLebrun, Nicolas | |
700 | 1 | _aGritti, Laura | |
700 | 1 | _aMartin, Christelle | |
700 | 1 | _aSeminatore-Nole, Christine | |
700 | 1 | _aToussaint, Aurelie | |
700 | 1 | _aMoreno, Sarah | |
700 | 1 | _aPoirier, Karine | |
700 | 1 | _aDorseuil, Olivier | |
700 | 1 | _aChelly, Jamel | |
700 | 1 | _aHackett, Anna | |
700 | 1 | _aGecz, Jozef | |
700 | 1 | _aBieth, Eric | |
700 | 1 | _aFaudet, Anne | |
700 | 1 | _aHeron, Delphine | |
700 | 1 | _aFrank Kooy, R | |
700 | 1 | _aLoeys, Bart | |
700 | 1 | _aHumeau, Yann | |
700 | 1 | _aSala, Carlo | |
700 | 1 | _aBilluart, Pierre | |
773 | 0 |
_tHuman molecular genetics _gvol. 24 _gno. 4 _gp. 1106-18 |
|
856 | 4 | 0 |
_uhttps://doi.org/10.1093/hmg/ddu523 _zAvailable from publisher's website |
999 |
_c24268760 _d24268760 |