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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-ftinstagro:oai:HAL:hal-03790568v2&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 A.C A1 Helm, Benjamin, M A1 Kini, Usha A1 Lasa-Aranzasti, Amaia A1 Lesca, Gaëtan A1 Lynch, Sally-Ann A1 Mathijssen, Irene M.J A1 Mcgowan, Ruth A1 Monaghan, Kristin G A1 Odent, Sylvie A1 Pfundt, Rolph A1 Putoux, Audrey A1 van Reeuwijk, Jeroen A1 Santen, Gijs W.E A1 Sasaki, Erina A1 Sorlin, Arthur A1 van der Spek, Peter, J A1 Stegmann, Alexander, P. A A1 Swagemakers, Sigrid M.A A1 Valenzuela, Irene A1 Viora-Dupont, Eléonore A1 Vitobello, Antonio A1 Ware, Stephanie, M A1 Wéber, Mathys A1 Gilissen, Christian A1 Low, Karen, J A1 Fisher, Simon, E 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 MESH: Abnormalities K1 Multiple K1 MESH: Bone Diseases K1 Developmental K1 MESH: Tooth Abnormalities K1 MESH: Transcription Factors K1 MESH: Chromosome Deletion K1 MESH: Facies K1 MESH: Humans K1 MESH: Intellectual Disability K1 MESH: Mutation K1 Missense K1 MESH: Phenotype K1 MESH: Proteasome Endopeptidase Complex K1 MESH: Repressor Proteins 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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