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Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein.
Genet Med. 2023 Nov;25(11):100962. doi: 10.1016/j.gim.2023.100962. Epub 2023 Sep 1.
Genet Med. 2023.
PMID: 37658852
Free article.
No abstract available.
Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein.
de Boer E, Ockeloen CW, Kampen RA, Hampstead JE, Dingemans AJM, Rots D, Lütje L, Ashraf T, Baker R, Barat-Houari M, Angle B, Chatron N, Denommé-Pichon AS, Devinsky O, Dubourg C, Elmslie F, Elloumi HZ, Faivre L, Fitzgerald-Butt S, Geneviève D, Goos JAC, Helm BM, Kini U, Lasa-Aranzasti A, Lesca G, Lynch SA, Mathijssen IMJ, McGowan R, Monaghan KG, Odent S, Pfundt R, Putoux A, van Reeuwijk J, Santen GWE, Sasaki E, Sorlin A, van der Spek PJ, Stegmann APA, Swagemakers SMA, Valenzuela I, Viora-Dupont E, Vitobello A, Ware SM, Wéber M, Gilissen C, Low KJ, Fisher SE, Vissers LELM, Wong MMK, Kleefstra T.
de Boer E, et al. Among authors: lutje l.
Genet Med. 2022 Oct;24(10):2051-2064. doi: 10.1016/j.gim.2022.06.007. Epub 2022 Jul 14.
Genet Med. 2022.
PMID: 35833929
Free article.
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FriendlyClearMap: an optimized toolkit for mouse brain mapping and analysis.
Negwer M, Bosch B, Bormann M, Hesen R, Lütje L, Aarts L, Rossing C, Nadif Kasri N, Schubert D.
Negwer M, et al. Among authors: lutje l.
Gigascience. 2022 Dec 28;12:giad035. doi: 10.1093/gigascience/giad035. Epub 2023 May 23.
Gigascience. 2022.
PMID: 37222748
Free PMC article.
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EHMT1 regulates Parvalbumin-positive interneuron development and GABAergic input in sensory cortical areas.
Negwer M, Piera K, Hesen R, Lütje L, Aarts L, Schubert D, Nadif Kasri N.
Negwer M, et al. Among authors: lutje l.
Brain Struct Funct. 2020 Dec;225(9):2701-2716. doi: 10.1007/s00429-020-02149-9. Epub 2020 Sep 25.
Brain Struct Funct. 2020.
PMID: 32975655
Free PMC article.
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