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Gain-of-function variants in GABRD reveal a novel pathway for neurodevelopmental disorders and epilepsy.
Ahring PK, Liao VWY, Gardella E, Johannesen KM, Krey I, Selmer KK, Stadheim BF, Davis H, Peinhardt C, Koko M, Coorg RK, Syrbe S, Bertsche A, Santiago-Sim T, Diemer T, Fenger CD, Platzer K, Eichler EE, Lerche H, Lemke JR, Chebib M, Møller RS. Ahring PK, et al. Among authors: diemer t. Brain. 2022 May 24;145(4):1299-1309. doi: 10.1093/brain/awab391. Brain. 2022. PMID: 34633442 Free PMC article.
Elucidating the molecular mechanisms associated with TARS2-related mitochondrial disease.
Zheng WQ, Pedersen SV, Thompson K, Bellacchio E, French CE, Munro B, Pearson TS, Vogt J, Diodato D, Diemer T, Ernst A, Horvath R, Chitre M, Ek J, Wibrand F, Grange DK, Raymond L, Zhou XL, Taylor RW, Ostergaard E. Zheng WQ, et al. Among authors: diemer t. Hum Mol Genet. 2022 Feb 21;31(4):523-534. doi: 10.1093/hmg/ddab257. Hum Mol Genet. 2022. PMID: 34508595
A systematic review on concurrent aneuploidy screening and preimplantation genetic testing for hereditary disorders: What is the prevalence of aneuploidy and is there a clinical effect from aneuploidy screening?
Toft CLF, Ingerslev HJ, Kesmodel US, Diemer T, Degn B, Ernst A, Okkels H, Kjartansdóttir KR, Pedersen IS. Toft CLF, et al. Among authors: diemer t. Acta Obstet Gynecol Scand. 2020 Jun;99(6):696-706. doi: 10.1111/aogs.13823. Epub 2020 Mar 13. Acta Obstet Gynecol Scand. 2020. PMID: 32039470 Free article.
[Preimplantation genetic testing for aneuploidy].
Holmqvist V, Roos LKS, Kjartansdottir KR, Dunø M, Petersen MR, Hnida C, Pedersen IS, Ernst A, Toft CLF, Diemer T, Ingerslev HJ, Pinborg A, Løssl K. Holmqvist V, et al. Among authors: diemer t. Ugeskr Laeger. 2019 May 13;181(20):V12180849. Ugeskr Laeger. 2019. PMID: 31124451 Free article. Review. Danish.
[Preimplantation genetic diagnosis].
Ingerslev HJ, Degn B, Hnida C, Diemer T, Petersen MB, Olesen TN, Krarup H, Pedersen IS. Ingerslev HJ, et al. Among authors: diemer t. Ugeskr Laeger. 2018 Apr 2;180(14):V09170692. Ugeskr Laeger. 2018. PMID: 29622066 Free article. Review. Danish.
[Preimplantation genetic testing].
Løssl K, Bentzen JG, Petersen MR, Roos LS, Kjartansdóttir KR, Grøndahl ML, Troest B, Toft CLF, Pedersen IS, Diemer T, Ingerslev HJ. Løssl K, et al. Among authors: diemer t. Ugeskr Laeger. 2021 Nov 29;183(48):V04210378. Ugeskr Laeger. 2021. PMID: 34852911 Free article. Review. Danish.
[Priapism].
Rosellen J, Hauptmann A, Wagenlehner F, Diemer T. Rosellen J, et al. Among authors: diemer t. Urologie. 2024 Apr 23. doi: 10.1007/s00120-024-02338-y. Online ahead of print. Urologie. 2024. PMID: 38653788 Review. German.
132 results