| 000 | 02399 a2200757 4500 | ||
|---|---|---|---|
| 005 | 20250518012718.0 | ||
| 264 | 0 | _c20190514 | |
| 008 | 201905s 0 0 eng d | ||
| 022 | _a1537-6605 | ||
| 024 | 7 |
_a10.1016/j.ajhg.2018.10.026 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _ade Brouwer, Arjan P M | |
| 245 | 0 | 0 |
_aVariants in PUS7 Cause Intellectual Disability with Speech Delay, Microcephaly, Short Stature, and Aggressive Behavior. _h[electronic resource] |
| 260 |
_bAmerican journal of human genetics _c12 2018 |
||
| 300 |
_a1045-1052 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 | _aAdolescent |
| 650 | 0 | 4 |
_aAggression _xphysiology |
| 650 | 0 | 4 | _aAnimals |
| 650 | 0 | 4 | _aChild |
| 650 | 0 | 4 |
_aDrosophila melanogaster _xgenetics |
| 650 | 0 | 4 |
_aDwarfism _xgenetics |
| 650 | 0 | 4 |
_aExons _xgenetics |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 |
_aGene Knockout Techniques _xmethods |
| 650 | 0 | 4 |
_aGenetic Variation _xgenetics |
| 650 | 0 | 4 | _aHomozygote |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 |
_aIntellectual Disability _xgenetics |
| 650 | 0 | 4 |
_aLanguage Development Disorders _xgenetics |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 |
_aMicrocephaly _xgenetics |
| 650 | 0 | 4 | _aPedigree |
| 650 | 0 | 4 | _aPhenotype |
| 650 | 0 | 4 |
_aRNA, Messenger _xgenetics |
| 650 | 0 | 4 |
_aRNA, Transfer _xgenetics |
| 700 | 1 | _aAbou Jamra, Rami | |
| 700 | 1 | _aKörtel, Nadine | |
| 700 | 1 | _aSoyris, Clara | |
| 700 | 1 | _aPolla, Daniel L | |
| 700 | 1 | _aSafra, Modi | |
| 700 | 1 | _aZisso, Avia | |
| 700 | 1 | _aPowell, Christopher A | |
| 700 | 1 | _aRebelo-Guiomar, Pedro | |
| 700 | 1 | _aDinges, Nadja | |
| 700 | 1 | _aMorin, Violeta | |
| 700 | 1 | _aStock, Michael | |
| 700 | 1 | _aHussain, Mureed | |
| 700 | 1 | _aShahzad, Mohsin | |
| 700 | 1 | _aRiazuddin, Saima | |
| 700 | 1 | _aAhmed, Zubair M | |
| 700 | 1 | _aPfundt, Rolph | |
| 700 | 1 | _aSchwarz, Franziska | |
| 700 | 1 | _ade Boer, Lonneke | |
| 700 | 1 | _aReis, André | |
| 700 | 1 | _aGrozeva, Detilina | |
| 700 | 1 | _aRaymond, F Lucy | |
| 700 | 1 | _aRiazuddin, Sheikh | |
| 700 | 1 | _aKoolen, David A | |
| 700 | 1 | _aMinczuk, Michal | |
| 700 | 1 | _aRoignant, Jean-Yves | |
| 700 | 1 | _avan Bokhoven, Hans | |
| 700 | 1 | _aSchwartz, Schraga | |
| 773 | 0 |
_tAmerican journal of human genetics _gvol. 103 _gno. 6 _gp. 1045-1052 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1016/j.ajhg.2018.10.026 _zAvailable from publisher's website |
| 999 |
_c29140179 _d29140179 |
||