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1 Ergebnisse
1
Missense Variants in the Histone Acetyltransferase Complex ..:
Cogné, Benjamin
;
Ehresmann, Sophie
;
Beauregard-Lacroix, Eliane
...
qt4cf0w8wv. , 2019
Link:
https://escholarship.org/uc/item/4cf0w8wv
RT Journal T1
Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability
UL https://suche.suub.uni-bremen.de/peid=base-ftcdlib:oai:escholarship.org:ark:_13030_qt4cf0w8wv&Exemplar=1&LAN=DE A1 Cogné, Benjamin A1 Ehresmann, Sophie A1 Beauregard-Lacroix, Eliane A1 Rousseau, Justine A1 Besnard, Thomas A1 Garcia, Thomas A1 Petrovski, Slavé A1 Avni, Shiri A1 McWalter, Kirsty A1 Blackburn, Patrick R A1 Sanders, Stephan J A1 Uguen, Kévin A1 Harris, Jacqueline A1 Cohen, Julie S A1 Blyth, Moira A1 Lehman, Anna A1 Berg, Jonathan A1 Li, Mindy H A1 Kini, Usha A1 Joss, Shelagh A1 von der Lippe, Charlotte A1 Gordon, Christopher T A1 Humberson, Jennifer B A1 Robak, Laurie A1 Scott, Daryl A A1 Sutton, Vernon R A1 Skraban, Cara M A1 Johnston, Jennifer J A1 Poduri, Annapurna A1 Nordenskjöld, Magnus A1 Shashi, Vandana A1 Gerkes, Erica H A1 Bongers, Ernie MHF A1 Gilissen, Christian A1 Zarate, Yuri A A1 Kvarnung, Malin A1 Lally, Kevin P A1 Kulch, Peggy A A1 Daniels, Brina A1 Hernandez-Garcia, Andres A1 Stong, Nicholas A1 McGaughran, Julie A1 Retterer, Kyle A1 Tveten, Kristian A1 Sullivan, Jennifer A1 Geisheker, Madeleine R A1 Stray-Pedersen, Asbjorg A1 Tarpinian, Jennifer M A1 Klee, Eric W A1 Sapp, Julie C A1 Zyskind, Jacob A1 Holla, Øystein L A1 Bedoukian, Emma A1 Filippini, Francesca A1 Guimier, Anne A1 Picard, Arnaud A1 Busk, Øyvind L A1 Punetha, Jaya A1 Pfundt, Rolph A1 Lindstrand, Anna A1 Nordgren, Ann A1 Kalb, Fayth A1 Desai, Megha A1 Ebanks, Ashley Harmon A1 Jhangiani, Shalini N A1 Dewan, Tammie A1 Coban Akdemir, Zeynep H A1 Telegrafi, Aida A1 Zackai, Elaine H A1 Begtrup, Amber A1 Song, Xiaofei A1 Toutain, Annick A1 Wentzensen, Ingrid M A1 Odent, Sylvie A1 Bonneau, Dominique A1 Latypova, Xénia A1 Deb, Wallid A1 CAUSES Study A1 Redon, Sylvia A1 Bilan, Frédéric A1 Legendre, Marine A1 Troyer, Caitlin A1 Whitlock, Kerri A1 Caluseriu, Oana A1 Murphree, Marine I A1 Pichurin, Pavel N A1 Agre, Katherine A1 Gavrilova, Ralitza A1 Rinne, Tuula A1 Park, Meredith A1 Shain, Catherine A1 Heinzen, Erin L A1 Xiao, Rui A1 Amiel, Jeanne A1 Lyonnet, Stanislas A1 Isidor, Bertrand A1 Biesecker, Leslie G A1 Lowenstein, Dan A1 Posey, Jennifer E A1 Denommé-Pichon, Anne-Sophie PB eScholarship, University of California YR 2019 K1 CAUSES Study K1 Deciphering Developmental Disorders study K1 Humans K1 Syndrome K1 Adaptor Proteins K1 Signal Transducing K1 Nuclear Proteins K1 Prognosis K1 Autistic Disorder K1 Amino Acid Sequence K1 Sequence Homology K1 Mutation K1 Missense K1 Adolescent K1 Adult K1 Child K1 Preschool K1 Infant K1 Female K1 Male K1 Young Adult K1 Genetic Association Studies K1 Intellectual Disability K1 TRRAP K1 autism spectrum disorder K1 congenital malformations K1 de novo variants K1 histone acetylation K1 neurodevelopmental disorders K1 Intellectual and Developmental Disabilities (IDD) K1 Pediatric K1 Genetics K1 Brain Disorders K1 Neurosciences K1 Mental Health K1 Autism K1 Rare Diseases K1 2.1 Biological and endogenous factors K1 Aetiology K1 Biological Sciences K1 Medical and Health Sciences K1 Genetics & Heredity JF qt4cf0w8wv LK http://dx.doi.org/https://escholarship.org/uc/item/4cf0w8wv DO https://escholarship.org/uc/item/4cf0w8wv SF ELIB - SuUB Bremen
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