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