| 000 | 01686 a2200529 4500 | ||
|---|---|---|---|
| 005 | 20250517192003.0 | ||
| 264 | 0 | _c20190925 | |
| 008 | 201909s 0 0 eng d | ||
| 022 | _a1399-0004 | ||
| 024 | 7 |
_a10.1111/cge.13198 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aPowis, Z | |
| 245 | 0 | 0 |
_aDe novo variants in KLF7 are a potential novel cause of developmental delay/intellectual disability, neuromuscular and psychiatric symptoms. _h[electronic resource] |
| 260 |
_bClinical genetics _c05 2018 |
||
| 300 |
_a1030-1038 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article | ||
| 650 | 0 | 4 | _aAdolescent |
| 650 | 0 | 4 |
_aAutism Spectrum Disorder _xgenetics |
| 650 | 0 | 4 | _aChild |
| 650 | 0 | 4 | _aChild, Preschool |
| 650 | 0 | 4 |
_aDevelopmental Disabilities _xgenetics |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aGenetic Predisposition to Disease |
| 650 | 0 | 4 |
_aHaploinsufficiency _xgenetics |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 |
_aIntellectual Disability _xgenetics |
| 650 | 0 | 4 |
_aKruppel-Like Transcription Factors _xgenetics |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 |
_aMutation, Missense _xgenetics |
| 650 | 0 | 4 | _aExome Sequencing |
| 700 | 1 | _aPetrik, I | |
| 700 | 1 | _aCohen, J S | |
| 700 | 1 | _aEscolar, D | |
| 700 | 1 | _aBurton, J | |
| 700 | 1 | _avan Ravenswaaij-Arts, C M A | |
| 700 | 1 | _aSival, D A | |
| 700 | 1 | _aStegmann, A P A | |
| 700 | 1 | _aKleefstra, T | |
| 700 | 1 | _aPfundt, R | |
| 700 | 1 | _aChikarmane, R | |
| 700 | 1 | _aBegtrup, A | |
| 700 | 1 | _aHuether, R | |
| 700 | 1 | _aTang, S | |
| 700 | 1 | _aShinde, D N | |
| 773 | 0 |
_tClinical genetics _gvol. 93 _gno. 5 _gp. 1030-1038 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1111/cge.13198 _zAvailable from publisher's website |
| 999 |
_c27899961 _d27899961 |
||