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Missense variants in ANKRD11 cause KBG syndrome by impairme..:
de Boer, Elke
;
Ockeloen, Charlotte
;
Kampen, Rosalie
...
info:eu-repo/semantics/altIdentifier/doi/10.1016/j.gim.2022.06.007. , 2022
Link:
https://univ-rennes.hal.science/hal-03790568
RT Journal T1
Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein
UL https://suche.suub.uni-bremen.de/peid=base-ftunimontpellier:oai:HAL:hal-03790568v1&Exemplar=1&LAN=DE A1 de Boer, Elke A1 Ockeloen, Charlotte A1 Kampen, Rosalie A1 Hampstead, Juliet A1 Dingemans, Alexander A1 Rots, Dmitrijs A1 Lütje, Lukas A1 Ashraf, Tazeen A1 Baker, Rachel A1 Barat-Houari, Mouna A1 Angle, Brad A1 Chatron, Nicolas A1 Denommé-Pichon, Anne-Sophie A1 Devinsky, Orrin A1 Dubourg, Christèle A1 Elmslie, Frances A1 Elloumi, Houda Zghal A1 Faivre, Laurence A1 Fitzgerald-Butt, Sarah A1 Geneviève, David A1 Goos, Jacqueline A1 Helm, Benjamin A1 Kini, Usha A1 Lasa-Aranzasti, Amaia A1 Lesca, Gaetan A1 Lynch, Sally A1 Mathijssen, Irene A1 Mcgowan, Ruth A1 Monaghan, Kristin A1 Odent, Sylvie A1 Pfundt, Rolph A1 Putoux, Audrey A1 van Reeuwijk, Jeroen A1 Santen, Gijs A1 Sasaki, Erina A1 Sorlin, Arthur A1 van der Spek, Peter A1 Stegmann, Alexander A1 Swagemakers, Sigrid A1 Valenzuela, Irene A1 Viora-Dupont, Eléonore A1 Vitobello, Antonio A1 Ware, Stephanie A1 Wéber, Mathys A1 Gilissen, Christian A1 Low, Karen A1 Fisher, Simon A1 Dingemans, Alexander J.M A1 Goos, Jacqueline A.C A1 Mathijssen, Irene M.J A1 Santen, Gijs W.E A1 Stegmann, Alexander P.A A1 Swagemakers, Sigrid M.A A1 Vissers, Lisenka E.L.M A1 Wong, Maggie M.K A1 Kleefstra, Tjitske PB HAL CCSD; Nature Publishing Group YR 2022 K1 ANKRD11 K1 Genotype–phenotype study K1 KBG syndrome K1 Missense variants K1 Neurodevelopmental disorders K1 [SDV]Life Sciences [q-bio] K1 [SDV.GEN]Life Sciences [q-bio]/Genetics JF info:eu-repo/semantics/altIdentifier/doi/10.1016/j.gim.2022.06.007 LK http://dx.doi.org/https://univ-rennes.hal.science/hal-03790568 DO https://univ-rennes.hal.science/hal-03790568 SF ELIB - SuUB Bremen
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