| 000 | 05326 a2201789 4500 | ||
|---|---|---|---|
| 005 | 20250518025142.0 | ||
| 264 | 0 | _c20191218 | |
| 008 | 201912s 0 0 eng d | ||
| 022 | _a1537-6605 | ||
| 024 | 7 |
_a10.1016/j.ajhg.2019.01.010 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aCogné, Benjamin | |
| 245 | 0 | 0 |
_aMissense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability. _h[electronic resource] |
| 260 |
_bAmerican journal of human genetics _c03 2019 |
||
| 300 |
_a530-541 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, N.I.H., Intramural; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 |
_aAdaptor Proteins, Signal Transducing _xgenetics |
| 650 | 0 | 4 | _aAdolescent |
| 650 | 0 | 4 | _aAdult |
| 650 | 0 | 4 | _aAmino Acid Sequence |
| 650 | 0 | 4 |
_aAutistic Disorder _xetiology |
| 650 | 0 | 4 | _aChild |
| 650 | 0 | 4 | _aChild, Preschool |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 | _aGenetic Association Studies |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aInfant |
| 650 | 0 | 4 |
_aIntellectual Disability _xetiology |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 | _aMutation, Missense |
| 650 | 0 | 4 |
_aNuclear Proteins _xgenetics |
| 650 | 0 | 4 | _aPrognosis |
| 650 | 0 | 4 | _aSequence Homology |
| 650 | 0 | 4 | _aSyndrome |
| 650 | 0 | 4 | _aYoung Adult |
| 700 | 1 | _aEhresmann, Sophie | |
| 700 | 1 | _aBeauregard-Lacroix, Eliane | |
| 700 | 1 | _aRousseau, Justine | |
| 700 | 1 | _aBesnard, Thomas | |
| 700 | 1 | _aGarcia, Thomas | |
| 700 | 1 | _aPetrovski, Slavé | |
| 700 | 1 | _aAvni, Shiri | |
| 700 | 1 | _aMcWalter, Kirsty | |
| 700 | 1 | _aBlackburn, Patrick R | |
| 700 | 1 | _aSanders, Stephan J | |
| 700 | 1 | _aUguen, Kévin | |
| 700 | 1 | _aHarris, Jacqueline | |
| 700 | 1 | _aCohen, Julie S | |
| 700 | 1 | _aBlyth, Moira | |
| 700 | 1 | _aLehman, Anna | |
| 700 | 1 | _aBerg, Jonathan | |
| 700 | 1 | _aLi, Mindy H | |
| 700 | 1 | _aKini, Usha | |
| 700 | 1 | _aJoss, Shelagh | |
| 700 | 1 | _avon der Lippe, Charlotte | |
| 700 | 1 | _aGordon, Christopher T | |
| 700 | 1 | _aHumberson, Jennifer B | |
| 700 | 1 | _aRobak, Laurie | |
| 700 | 1 | _aScott, Daryl A | |
| 700 | 1 | _aSutton, Vernon R | |
| 700 | 1 | _aSkraban, Cara M | |
| 700 | 1 | _aJohnston, Jennifer J | |
| 700 | 1 | _aPoduri, Annapurna | |
| 700 | 1 | _aNordenskjöld, Magnus | |
| 700 | 1 | _aShashi, Vandana | |
| 700 | 1 | _aGerkes, Erica H | |
| 700 | 1 | _aBongers, Ernie M H F | |
| 700 | 1 | _aGilissen, Christian | |
| 700 | 1 | _aZarate, Yuri A | |
| 700 | 1 | _aKvarnung, Malin | |
| 700 | 1 | _aLally, Kevin P | |
| 700 | 1 | _aKulch, Peggy A | |
| 700 | 1 | _aDaniels, Brina | |
| 700 | 1 | _aHernandez-Garcia, Andres | |
| 700 | 1 | _aStong, Nicholas | |
| 700 | 1 | _aMcGaughran, Julie | |
| 700 | 1 | _aRetterer, Kyle | |
| 700 | 1 | _aTveten, Kristian | |
| 700 | 1 | _aSullivan, Jennifer | |
| 700 | 1 | _aGeisheker, Madeleine R | |
| 700 | 1 | _aStray-Pedersen, Asbjorg | |
| 700 | 1 | _aTarpinian, Jennifer M | |
| 700 | 1 | _aKlee, Eric W | |
| 700 | 1 | _aSapp, Julie C | |
| 700 | 1 | _aZyskind, Jacob | |
| 700 | 1 | _aHolla, Øystein L | |
| 700 | 1 | _aBedoukian, Emma | |
| 700 | 1 | _aFilippini, Francesca | |
| 700 | 1 | _aGuimier, Anne | |
| 700 | 1 | _aPicard, Arnaud | |
| 700 | 1 | _aBusk, Øyvind L | |
| 700 | 1 | _aPunetha, Jaya | |
| 700 | 1 | _aPfundt, Rolph | |
| 700 | 1 | _aLindstrand, Anna | |
| 700 | 1 | _aNordgren, Ann | |
| 700 | 1 | _aKalb, Fayth | |
| 700 | 1 | _aDesai, Megha | |
| 700 | 1 | _aEbanks, Ashley Harmon | |
| 700 | 1 | _aJhangiani, Shalini N | |
| 700 | 1 | _aDewan, Tammie | |
| 700 | 1 | _aCoban Akdemir, Zeynep H | |
| 700 | 1 | _aTelegrafi, Aida | |
| 700 | 1 | _aZackai, Elaine H | |
| 700 | 1 | _aBegtrup, Amber | |
| 700 | 1 | _aSong, Xiaofei | |
| 700 | 1 | _aToutain, Annick | |
| 700 | 1 | _aWentzensen, Ingrid M | |
| 700 | 1 | _aOdent, Sylvie | |
| 700 | 1 | _aBonneau, Dominique | |
| 700 | 1 | _aLatypova, Xénia | |
| 700 | 1 | _aDeb, Wallid | |
| 700 | 1 | _aRedon, Sylvia | |
| 700 | 1 | _aBilan, Frédéric | |
| 700 | 1 | _aLegendre, Marine | |
| 700 | 1 | _aTroyer, Caitlin | |
| 700 | 1 | _aWhitlock, Kerri | |
| 700 | 1 | _aCaluseriu, Oana | |
| 700 | 1 | _aMurphree, Marine I | |
| 700 | 1 | _aPichurin, Pavel N | |
| 700 | 1 | _aAgre, Katherine | |
| 700 | 1 | _aGavrilova, Ralitza | |
| 700 | 1 | _aRinne, Tuula | |
| 700 | 1 | _aPark, Meredith | |
| 700 | 1 | _aShain, Catherine | |
| 700 | 1 | _aHeinzen, Erin L | |
| 700 | 1 | _aXiao, Rui | |
| 700 | 1 | _aAmiel, Jeanne | |
| 700 | 1 | _aLyonnet, Stanislas | |
| 700 | 1 | _aIsidor, Bertrand | |
| 700 | 1 | _aBiesecker, Leslie G | |
| 700 | 1 | _aLowenstein, Dan | |
| 700 | 1 | _aPosey, Jennifer E | |
| 700 | 1 | _aDenommé-Pichon, Anne-Sophie | |
| 700 | 1 | _aFérec, Claude | |
| 700 | 1 | _aYang, Xiang-Jiao | |
| 700 | 1 | _aRosenfeld, Jill A | |
| 700 | 1 | _aGilbert-Dussardier, Brigitte | |
| 700 | 1 | _aAudebert-Bellanger, Séverine | |
| 700 | 1 | _aRedon, Richard | |
| 700 | 1 | _aStessman, Holly A F | |
| 700 | 1 | _aNellaker, Christoffer | |
| 700 | 1 | _aYang, Yaping | |
| 700 | 1 | _aLupski, James R | |
| 700 | 1 | _aGoldstein, David B | |
| 700 | 1 | _aEichler, Evan E | |
| 700 | 1 | _aBolduc, Francois | |
| 700 | 1 | _aBézieau, Stéphane | |
| 700 | 1 | _aKüry, Sébastien | |
| 700 | 1 | _aCampeau, Philippe M | |
| 773 | 0 |
_tAmerican journal of human genetics _gvol. 104 _gno. 3 _gp. 530-541 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1016/j.ajhg.2019.01.010 _zAvailable from publisher's website |
| 999 |
_c29434667 _d29434667 |
||