000 01930 a2200589 4500
005 20250516215026.0
264 0 _c20140819
008 201408s 0 0 eng d
022 _a1476-4687
024 7 _a10.1038/nature13394
_2doi
040 _aNLM
_beng
_cNLM
100 1 _aGilissen, Christian
245 0 0 _aGenome sequencing identifies major causes of severe intellectual disability.
_h[electronic resource]
260 _bNature
_cJul 2014
300 _a344-7 p.
_bdigital
500 _aPublication Type: Journal Article; Research Support, Non-U.S. Gov't
650 0 4 _aChromosomes, Human, Pair 4
_xgenetics
650 0 4 _aChromosomes, Human, X
_xgenetics
650 0 4 _aCohort Studies
650 0 4 _aDNA Copy Number Variations
_xgenetics
650 0 4 _aGene Duplication
_xgenetics
650 0 4 _aGenome, Human
_xgenetics
650 0 4 _aGuanine Nucleotide Exchange Factors
_xgenetics
650 0 4 _aHumans
650 0 4 _aIntellectual Disability
_xgenetics
650 0 4 _aMale
650 0 4 _aMutation
_xgenetics
650 0 4 _aPolymorphism, Single Nucleotide
_xgenetics
650 0 4 _aSequence Analysis, DNA
700 1 _aHehir-Kwa, Jayne Y
700 1 _aThung, Djie Tjwan
700 1 _avan de Vorst, Maartje
700 1 _avan Bon, Bregje W M
700 1 _aWillemsen, Marjolein H
700 1 _aKwint, Michael
700 1 _aJanssen, Irene M
700 1 _aHoischen, Alexander
700 1 _aSchenck, Annette
700 1 _aLeach, Richard
700 1 _aKlein, Robert
700 1 _aTearle, Rick
700 1 _aBo, Tan
700 1 _aPfundt, Rolph
700 1 _aYntema, Helger G
700 1 _ade Vries, Bert B A
700 1 _aKleefstra, Tjitske
700 1 _aBrunner, Han G
700 1 _aVissers, Lisenka E L M
700 1 _aVeltman, Joris A
773 0 _tNature
_gvol. 511
_gno. 7509
_gp. 344-7
856 4 0 _uhttps://doi.org/10.1038/nature13394
_zAvailable from publisher's website
999 _c23887157
_d23887157