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Generation of two human iPSC lines (HIMRi002-A and HIMRi003-A) derived from Caveolinopathy patients with rippling muscle disease.
Boeing A, Mavrommatis L, Daya NM, Zhuge H, Volke L, Kocabas A, Kneifel M, Athamneh M, Krause K, Südkamp N, Döring K, Theiss C, Roos A, Zaehres H, Güttsches AK, Vorgerd M. Boeing A, et al. Among authors: doring k. Stem Cell Res. 2023 Oct;72:103220. doi: 10.1016/j.scr.2023.103220. Epub 2023 Oct 4. Stem Cell Res. 2023. PMID: 37839261 Free article.
Exome Sequencing and Optical Genome Mapping in Molecularly Unsolved Cases of Duchenne Muscular Dystrophy: Identification of a Causative X-Chromosomal Inversion Disrupting the DMD Gene.
Erbe LS, Hoffjan S, Janßen S, Kneifel M, Krause K, Gerding WM, Döring K, Güttsches AK, Roos A, Buena Atienza E, Gross C, Lücke T, Nguyen HHP, Vorgerd M, Köhler C. Erbe LS, et al. Among authors: doring k. Int J Mol Sci. 2023 Sep 28;24(19):14716. doi: 10.3390/ijms241914716. Int J Mol Sci. 2023. PMID: 37834164 Free PMC article.
Compound Heterozygous RYR1 Variants in a Patient with Severe Congenital Myopathy: Case Report and Comparison with Additional Cases of Recessive RYR1-Related Myopathy.
Janßen S, Erbe LS, Kneifel M, Vorgerd M, Döring K, Lubieniecki KP, Lubieniecka JM, Gerding WM, Casadei N, Güttsches AK, Heyer C, Lücke T, Nguyen HHP, Köhler C, Hoffjan S. Janßen S, et al. Among authors: doring k. Int J Mol Sci. 2024 Oct 9;25(19):10867. doi: 10.3390/ijms251910867. Int J Mol Sci. 2024. PMID: 39409197 Free PMC article.
Allograft Screws as Fixation of the Scarf Osteotomy.
Döring K, Apprich S, Hanna M, Windhager R, Puchner S. Döring K, et al. J Clin Med. 2024 Sep 23;13(18):5628. doi: 10.3390/jcm13185628. J Clin Med. 2024. PMID: 39337115 Free PMC article.
Hamartomas of the Tuber Cinereum Associated with X-Linked Deafness Show Signs of Pubertas Tarda Instead of Pubertas Praecox and No Gelastic Seizures-Long-Term Follow-Up of 12 Years.
Giesemann A, Schöner-Heinisch A, Götz F, Steinemann D, Lesinski-Schiedat A, Warnecke A, Lanfermann H, Hartmann H, Döring K. Giesemann A, et al. Among authors: doring k. Neuropediatrics. 2024 Jul 31. doi: 10.1055/s-0044-1788730. Online ahead of print. Neuropediatrics. 2024. PMID: 39084244
99 results