| 000 | 02658 a2200865 4500 | ||
|---|---|---|---|
| 005 | 20250517092459.0 | ||
| 264 | 0 | _c20170515 | |
| 008 | 201705s 0 0 eng d | ||
| 022 | _a1537-6605 | ||
| 024 | 7 |
_a10.1016/j.ajhg.2016.03.018 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aMcEntagart, Meriel | |
| 245 | 0 | 0 |
_aA Restricted Repertoire of De Novo Mutations in ITPR1 Cause Gillespie Syndrome with Evidence for Dominant-Negative Effect. _h[electronic resource] |
| 260 |
_bAmerican journal of human genetics _c05 2016 |
||
| 300 |
_a981-992 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 | _aAdolescent |
| 650 | 0 | 4 | _aAdult |
| 650 | 0 | 4 | _aAnimals |
| 650 | 0 | 4 |
_aAniridia _xetiology |
| 650 | 0 | 4 | _aCells, Cultured |
| 650 | 0 | 4 |
_aCerebellar Ataxia _xetiology |
| 650 | 0 | 4 | _aChild |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 |
_aGenes, Dominant _xgenetics |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 |
_aInositol 1,4,5-Trisphosphate Receptors _xchemistry |
| 650 | 0 | 4 |
_aIntellectual Disability _xetiology |
| 650 | 0 | 4 |
_aLymphocytes _xmetabolism |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 | _aMice |
| 650 | 0 | 4 | _aMicroscopy, Confocal |
| 650 | 0 | 4 | _aMiddle Aged |
| 650 | 0 | 4 |
_aMutation _xgenetics |
| 650 | 0 | 4 | _aPedigree |
| 650 | 0 | 4 | _aProtein Conformation |
| 700 | 1 | _aWilliamson, Kathleen A | |
| 700 | 1 | _aRainger, Jacqueline K | |
| 700 | 1 | _aWheeler, Ann | |
| 700 | 1 | _aSeawright, Anne | |
| 700 | 1 | _aDe Baere, Elfride | |
| 700 | 1 | _aVerdin, Hannah | |
| 700 | 1 | _aBergendahl, L Therese | |
| 700 | 1 | _aQuigley, Alan | |
| 700 | 1 | _aRainger, Joe | |
| 700 | 1 | _aDixit, Abhijit | |
| 700 | 1 | _aSarkar, Ajoy | |
| 700 | 1 | _aLópez Laso, Eduardo | |
| 700 | 1 | _aSanchez-Carpintero, Rocio | |
| 700 | 1 | _aBarrio, Jesus | |
| 700 | 1 | _aBitoun, Pierre | |
| 700 | 1 | _aPrescott, Trine | |
| 700 | 1 | _aRiise, Ruth | |
| 700 | 1 | _aMcKee, Shane | |
| 700 | 1 | _aCook, Jackie | |
| 700 | 1 | _aMcKie, Lisa | |
| 700 | 1 | _aCeulemans, Berten | |
| 700 | 1 | _aMeire, Françoise | |
| 700 | 1 | _aTemple, I Karen | |
| 700 | 1 | _aPrieur, Fabienne | |
| 700 | 1 | _aWilliams, Jonathan | |
| 700 | 1 | _aClouston, Penny | |
| 700 | 1 | _aNémeth, Andrea H | |
| 700 | 1 | _aBanka, Siddharth | |
| 700 | 1 | _aBengani, Hemant | |
| 700 | 1 | _aHandley, Mark | |
| 700 | 1 | _aFreyer, Elisabeth | |
| 700 | 1 | _aRoss, Allyson | |
| 700 | 1 | _avan Heyningen, Veronica | |
| 700 | 1 | _aMarsh, Joseph A | |
| 700 | 1 | _aElmslie, Frances | |
| 700 | 1 | _aFitzPatrick, David R | |
| 773 | 0 |
_tAmerican journal of human genetics _gvol. 98 _gno. 5 _gp. 981-992 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1016/j.ajhg.2016.03.018 _zAvailable from publisher's website |
| 999 |
_c25953771 _d25953771 |
||