| 000 | 02396 a2200757 4500 | ||
|---|---|---|---|
| 005 | 20250517171035.0 | ||
| 264 | 0 | _c20171027 | |
| 008 | 201710s 0 0 eng d | ||
| 022 | _a1537-6605 | ||
| 024 | 7 |
_a10.1016/j.ajhg.2017.07.010 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aIvanova, Ekaterina L | |
| 245 | 0 | 0 |
_aHomozygous Truncating Variants in TBC1D23 Cause Pontocerebellar Hypoplasia and Alter Cortical Development. _h[electronic resource] |
| 260 |
_bAmerican journal of human genetics _cSep 2017 |
||
| 300 |
_a428-440 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article | ||
| 650 | 0 | 4 | _aAdolescent |
| 650 | 0 | 4 | _aAnimals |
| 650 | 0 | 4 | _aCells, Cultured |
| 650 | 0 | 4 |
_aCerebellar Diseases _xgenetics |
| 650 | 0 | 4 |
_aCerebellum _xabnormalities |
| 650 | 0 | 4 | _aChild |
| 650 | 0 | 4 | _aChild, Preschool |
| 650 | 0 | 4 |
_aDevelopmental Disabilities _xgenetics |
| 650 | 0 | 4 |
_aEmbryo, Mammalian _xmetabolism |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 |
_aGTPase-Activating Proteins _xgenetics |
| 650 | 0 | 4 | _aHomozygote |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 |
_aIntellectual Disability _xgenetics |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 | _aMice |
| 650 | 0 | 4 |
_aMicrocephaly _xgenetics |
| 650 | 0 | 4 | _aMutation |
| 650 | 0 | 4 |
_aNervous System Malformations _xgenetics |
| 650 | 0 | 4 |
_aNeuroblastoma _xgenetics |
| 650 | 0 | 4 | _aNeuronal Outgrowth |
| 650 | 0 | 4 |
_aNeurons _xmetabolism |
| 650 | 0 | 4 | _aPedigree |
| 700 | 1 | _aMau-Them, Frédéric Tran | |
| 700 | 1 | _aRiazuddin, Saima | |
| 700 | 1 | _aKahrizi, Kimia | |
| 700 | 1 | _aLaugel, Vincent | |
| 700 | 1 | _aSchaefer, Elise | |
| 700 | 1 | _ade Saint Martin, Anne | |
| 700 | 1 | _aRunge, Karen | |
| 700 | 1 | _aIqbal, Zafar | |
| 700 | 1 | _aSpitz, Marie-Aude | |
| 700 | 1 | _aLaura, Mary | |
| 700 | 1 | _aDrouot, Nathalie | |
| 700 | 1 | _aGérard, Bénédicte | |
| 700 | 1 | _aDeleuze, Jean-François | |
| 700 | 1 | _ade Brouwer, Arjan P M | |
| 700 | 1 | _aRazzaq, Attia | |
| 700 | 1 | _aDollfus, Hélène | |
| 700 | 1 | _aAssir, Muhammad Zaman | |
| 700 | 1 | _aNitchké, Patrick | |
| 700 | 1 | _aHinckelmann, Maria-Victoria | |
| 700 | 1 | _aRopers, Hilger | |
| 700 | 1 | _aRiazuddin, Sheikh | |
| 700 | 1 | _aNajmabadi, Hossein | |
| 700 | 1 | _avan Bokhoven, Hans | |
| 700 | 1 | _aChelly, Jamel | |
| 773 | 0 |
_tAmerican journal of human genetics _gvol. 101 _gno. 3 _gp. 428-440 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1016/j.ajhg.2017.07.010 _zAvailable from publisher's website |
| 999 |
_c27480868 _d27480868 |
||