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Is there a dominant-negative effect in individuals with heterozygous disease-causing variants in COL4A3/COL4A4?
Riedhammer KM, Simmendinger H, Tasic V, Putnik J, Abazi-Emini N, Stajic N, Berutti R, Weidenbusch M, Patzer L, Lungu A, Milosevski-Lomic G, Günthner R, Braunisch MC, Ćomić J, Hoefele J. Riedhammer KM, et al. Among authors: simmendinger h. Clin Genet. 2024 Apr;105(4):406-414. doi: 10.1111/cge.14471. Epub 2024 Jan 12. Clin Genet. 2024. PMID: 38214412
The multifaceted phenotypic and genotypic spectrum of type-IV-collagen-related nephropathy-A human genetics department experience.
Ćomić J, Riedhammer KM, Günthner R, Schaaf CW, Richthammer P, Simmendinger H, Kieffer D, Berutti R, Tasic V, Abazi-Emini N, Nushi-Stavileci V, Putnik J, Stajic N, Lungu A, Gross O, Renders L, Heemann U, Braunisch MC, Meitinger T, Hoefele J. Ćomić J, et al. Among authors: simmendinger h. Front Med (Lausanne). 2022 Aug 31;9:957733. doi: 10.3389/fmed.2022.957733. eCollection 2022. Front Med (Lausanne). 2022. PMID: 36117978 Free PMC article.
[Proceedings: Bronchopulmonary preparation (author's transl)].
Stoeckel H, Simmendinger HJ. Stoeckel H, et al. Among authors: simmendinger hj. Langenbecks Arch Chir. 1973;334:701-8. doi: 10.1007/BF01286634. Langenbecks Arch Chir. 1973. PMID: 4776149 German. No abstract available.
[A portable monitor].
Simmendinger HJ. Simmendinger HJ. Z Prakt Anasth. 1971 Oct;6(5):378-9. Z Prakt Anasth. 1971. PMID: 4257170 German. No abstract available.
11 results