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617 results

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Page 1
Prevalence and clinical prediction of mitochondrial disorders in a large neuropediatric cohort.
van der Ven AT, Johannsen J, Kortüm F, Wagner M, Tsiakas K, Bierhals T, Lessel D, Herget T, Kloth K, Lisfeld J, Scholz T, Obi N, Wortmann S, Prokisch H, Kubisch C, Denecke J, Santer R, Hempel M. van der Ven AT, et al. Among authors: scholz t. Clin Genet. 2021 Dec;100(6):766-770. doi: 10.1111/cge.14061. Epub 2021 Sep 19. Clin Genet. 2021. PMID: 34490615
De novo loss-of-function variants in X-linked MED12 are associated with Hardikar syndrome in females.
Li D, Strong A, Shen KM, Cassiman D, Van Dyck M, Linhares ND, Valadares ER, Wang T, Pena SDJ, Jaeken J, Vergano S, Zackai E, Hing A, Chow P, Ganguly A, Scholz T, Bierhals T, Philipp D, Hakonarson H, Bhoj E. Li D, et al. Among authors: scholz t. Genet Med. 2021 Apr;23(4):637-644. doi: 10.1038/s41436-020-01031-7. Epub 2020 Nov 27. Genet Med. 2021. PMID: 33244166 Free article.
De novo FZR1 loss-of-function variants cause developmental and epileptic encephalopathies.
Manivannan SN, Roovers J, Smal N, Myers CT, Turkdogan D, Roelens F, Kanca O, Chung HL, Scholz T, Hermann K, Bierhals T, Caglayan HS, Stamberger H; MAE Working Group of EuroEPINOMICS RES Consortium; Mefford H, de Jonghe P, Yamamoto S, Weckhuysen S, Bellen HJ. Manivannan SN, et al. Among authors: scholz t. Brain. 2022 Jun 3;145(5):1684-1697. doi: 10.1093/brain/awab409. Brain. 2022. PMID: 34788397 Free PMC article.
CDK9 inhibition as an effective therapy for small cell lung cancer.
Valdez Capuccino L, Kleitke T, Szokol B, Svajda L, Martin F, Bonechi F, Krekó M, Azami S, Montinaro A, Wang Y, Nikolov V, Kaiser L, Bonasera D, Saggau J, Scholz T, Schmitt A, Beleggia F, Reinhardt HC, George J, Liccardi G, Walczak H, Tóvári J, Brägelmann J, Montero J, Sos ML, Őrfi L, Peltzer N. Valdez Capuccino L, et al. Among authors: scholz t. Cell Death Dis. 2024 May 20;15(5):345. doi: 10.1038/s41419-024-06724-4. Cell Death Dis. 2024. PMID: 38769311 Free PMC article.
Therapeutic stance towards persons with psychosis - a Grounded Theory study.
Galbusera L, Endres R, Scholz T, Jirku E, Thoma S. Galbusera L, et al. Among authors: scholz t. Int J Qual Stud Health Well-being. 2024 Dec;19(1):2333064. doi: 10.1080/17482631.2024.2333064. Epub 2024 Mar 29. Int J Qual Stud Health Well-being. 2024. PMID: 38552196 Free PMC article.
617 results