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AI-Supported Comprehensive Detection and Quantification of Biomarkers of Subclinical Widespread Diseases at Chest CT for Preventive Medicine.
Palm V, Norajitra T, von Stackelberg O, Heussel CP, Skornitzke S, Weinheimer O, Kopytova T, Klein A, Almeida SD, Baumgartner M, Bounias D, Scherer J, Kades K, Gao H, Jäger P, Nolden M, Tong E, Eckl K, Nattenmüller J, Nonnenmacher T, Naas O, Reuter J, Bischoff A, Kroschke J, Rengier F, Schlamp K, Debic M, Kauczor HU, Maier-Hein K, Wielpütz MO. Palm V, et al. Among authors: eckl k. Healthcare (Basel). 2022 Oct 29;10(11):2166. doi: 10.3390/healthcare10112166. Healthcare (Basel). 2022. PMID: 36360507 Free PMC article.
Quality of life and clinical characteristics of self-improving congenital ichthyosis within the disease spectrum of autosomal-recessive congenital ichthyosis.
Hake L, Süßmuth K, Komlosi K, Kopp J, Drerup C, Metze D, Traupe H, Hausser I, Eckl KM, Hennies HC, Fischer J, Oji V. Hake L, et al. Among authors: eckl km. J Eur Acad Dermatol Venereol. 2022 Apr;36(4):582-591. doi: 10.1111/jdv.17873. Epub 2022 Jan 13. J Eur Acad Dermatol Venereol. 2022. PMID: 34908195
Unknown mutations and genotype/phenotype correlations of autosomal recessive congenital ichthyosis in patients from Saudi Arabia and Pakistan.
Lima Cunha D, Alakloby OM, Gruber R, Kakar N, Ahmad J, Alawbathani S, Plank R, Eckl K, Krabichler B, Altmüller J, Nürnberg P, Zschocke J, Borck G, Schmuth M, Alabdulkareem AS, Abdulaziz Alnutaifi K, Hennies HC. Lima Cunha D, et al. Among authors: eckl k. Mol Genet Genomic Med. 2019 Mar;7(3):e539. doi: 10.1002/mgg3.539. Epub 2019 Jan 1. Mol Genet Genomic Med. 2019. PMID: 30600594 Free PMC article.
Transglutaminase 1 Replacement Therapy Successfully Mitigates the Autosomal Recessive Congenital Ichthyosis Phenotype in Full-Thickness Skin Disease Equivalents.
Plank R, Yealland G, Miceli E, Lima Cunha D, Graff P, Thomforde S, Gruber R, Moosbrugger-Martinz V, Eckl K, Calderón M, Hennies HC, Hedtrich S. Plank R, et al. Among authors: eckl k. J Invest Dermatol. 2019 May;139(5):1191-1195. doi: 10.1016/j.jid.2018.11.002. Epub 2018 Nov 15. J Invest Dermatol. 2019. PMID: 30448383 Free article. No abstract available.
Mutations in AP3D1 associated with immunodeficiency and seizures define a new type of Hermansky-Pudlak syndrome.
Ammann S, Schulz A, Krägeloh-Mann I, Dieckmann NM, Niethammer K, Fuchs S, Eckl KM, Plank R, Werner R, Altmüller J, Thiele H, Nürnberg P, Bank J, Strauss A, von Bernuth H, Zur Stadt U, Grieve S, Griffiths GM, Lehmberg K, Hennies HC, Ehl S. Ammann S, et al. Among authors: eckl km. Blood. 2016 Feb 25;127(8):997-1006. doi: 10.1182/blood-2015-09-671636. Epub 2016 Jan 7. Blood. 2016. PMID: 26744459 Free PMC article.
35 results