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Page 1
Clinical practice recommendations for primary hyperoxaluria: an expert consensus statement from ERKNet and OxalEurope.
Groothoff JW, Metry E, Deesker L, Garrelfs S, Acquaviva C, Almardini R, Beck BB, Boyer O, Cerkauskiene R, Ferraro PM, Groen LA, Gupta A, Knebelmann B, Mandrile G, Moochhala SS, Prytula A, Putnik J, Rumsby G, Soliman NA, Somani B, Bacchetta J. Groothoff JW, et al. Among authors: putnik j. Nat Rev Nephrol. 2023 Mar;19(3):194-211. doi: 10.1038/s41581-022-00661-1. Epub 2023 Jan 5. Nat Rev Nephrol. 2023. PMID: 36604599 Review.
Modeling of ACTN4-Based Podocytopathy Using Drosophila Nephrocytes.
Odenthal J, Dittrich S, Ludwig V, Merz T, Reitmeier K, Reusch B, Höhne M, Cosgun ZC, Hohenadel M, Putnik J, Göbel H, Rinschen MM, Altmüller J, Koehler S, Schermer B, Benzing T, Beck BB, Brinkkötter PT, Habbig S, Bartram MP. Odenthal J, et al. Among authors: putnik j. Kidney Int Rep. 2022 Oct 31;8(2):317-329. doi: 10.1016/j.ekir.2022.10.024. eCollection 2023 Feb. Kidney Int Rep. 2022. PMID: 36815115 Free PMC article.
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: putnik j. Clin Genet. 2024 Apr;105(4):406-414. doi: 10.1111/cge.14471. Epub 2024 Jan 12. Clin Genet. 2024. PMID: 38214412
Exome sequencing in individuals with congenital anomalies of the kidney and urinary tract (CAKUT): a single-center experience.
Riedhammer KM, Ćomić J, Tasic V, Putnik J, Abazi-Emini N, Paripovic A, Stajic N, Meitinger T, Nushi-Stavileci V, Berutti R, Braunisch MC, Hoefele J. Riedhammer KM, et al. Among authors: putnik j. Eur J Hum Genet. 2023 Jun;31(6):674-680. doi: 10.1038/s41431-023-01331-x. Epub 2023 Mar 16. Eur J Hum Genet. 2023. PMID: 36922632 Free PMC article.
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: putnik j. 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.
Weight as a Risk Factor for Mortality in Critically Ill Patients.
Ayalon I, Woo JG, Basu RK, Kaddourah A, Goldstein SL, Kaplan JM; AWARE Investigators. Ayalon I, et al. Pediatrics. 2020 Aug;146(2):e20192829. doi: 10.1542/peds.2019-2829. Epub 2020 Jul 3. Pediatrics. 2020. PMID: 32620676 Free PMC article.
Exome Sequencing and Identification of Phenocopies in Patients With Clinically Presumed Hereditary Nephropathies.
Riedhammer KM, Braunisch MC, Günthner R, Wagner M, Hemmer C, Strom TM, Schmaderer C, Renders L, Tasic V, Gucev Z, Nushi-Stavileci V, Putnik J, Stajić N, Weidenbusch M, Uetz B, Montoya C, Strotmann P, Ponsel S, Lange-Sperandio B, Hoefele J. Riedhammer KM, et al. Among authors: putnik j. Am J Kidney Dis. 2020 Oct;76(4):460-470. doi: 10.1053/j.ajkd.2019.12.008. Epub 2020 Apr 28. Am J Kidney Dis. 2020. PMID: 32359821
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