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 |