| 000 | 01814 a2200565 4500 | ||
|---|---|---|---|
| 005 | 20250516081248.0 | ||
| 264 | 0 | _c20120611 | |
| 008 | 201206s 0 0 eng d | ||
| 022 | _a1468-6244 | ||
| 024 | 7 |
_a10.1136/jmedgenet-2011-100542 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aWillemsen, Marjolein H | |
| 245 | 0 | 0 |
_aMutations in DYNC1H1 cause severe intellectual disability with neuronal migration defects. _h[electronic resource] |
| 260 |
_bJournal of medical genetics _cMar 2012 |
||
| 300 |
_a179-83 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 |
_aAbnormalities, Multiple _xenzymology |
| 650 | 0 | 4 | _aAnimals |
| 650 | 0 | 4 | _aBase Sequence |
| 650 | 0 | 4 | _aCell Movement |
| 650 | 0 | 4 | _aChild |
| 650 | 0 | 4 |
_aCytoplasmic Dyneins _xgenetics |
| 650 | 0 | 4 | _aDNA Mutational Analysis |
| 650 | 0 | 4 | _aExome |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aGenetic Association Studies |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 |
_aIntellectual Disability _xenzymology |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 | _aMice |
| 650 | 0 | 4 | _aMiddle Aged |
| 650 | 0 | 4 | _aMolecular Sequence Data |
| 650 | 0 | 4 | _aMutation, Missense |
| 650 | 0 | 4 |
_aNeurons _xphysiology |
| 700 | 1 | _aVissers, Lisenka E L | |
| 700 | 1 | _aWillemsen, Michèl A A P | |
| 700 | 1 | _avan Bon, Bregje W M | |
| 700 | 1 | _aKroes, Thessa | |
| 700 | 1 | _ade Ligt, Joep | |
| 700 | 1 | _ade Vries, Bert B | |
| 700 | 1 | _aSchoots, Jeroen | |
| 700 | 1 | _aLugtenberg, Dorien | |
| 700 | 1 | _aHamel, Ben C J | |
| 700 | 1 | _avan Bokhoven, Hans | |
| 700 | 1 | _aBrunner, Han G | |
| 700 | 1 | _aVeltman, Joris A | |
| 700 | 1 | _aKleefstra, Tjitske | |
| 773 | 0 |
_tJournal of medical genetics _gvol. 49 _gno. 3 _gp. 179-83 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1136/jmedgenet-2011-100542 _zAvailable from publisher's website |
| 999 |
_c21577207 _d21577207 |
||