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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1997 1
1998 1
1999 2
2000 1
2001 2
2002 3
2003 3
2004 1
2006 2
2007 2
2008 1
2009 1
2010 1
2011 3
2012 2
2013 1
2015 1
2016 1
2018 1
2019 1
2020 2
2021 2
2022 5
2023 5
2024 1

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40 results

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Page 1
Refining genotype-phenotype correlations in 304 patients with autosomal recessive polycystic kidney disease and PKHD1 gene variants.
Burgmaier K, Brinker L, Erger F, Beck BB, Benz MR, Bergmann C, Boyer O, Collard L, Dafinger C, Fila M, Kowalewska C, Lange-Sperandio B, Massella L, Mastrangelo A, Mekahli D, Miklaszewska M, Ortiz-Bruechle N, Patzer L, Prikhodina L, Ranchin B, Ranguelov N, Schild R, Seeman T, Sever L, Sikora P, Szczepanska M, Teixeira A, Thumfart J, Uetz B, Weber LT, Wühl E, Zerres K; ESCAPE Study group; GPN study group; Dötsch J, Schaefer F, Liebau MC; ARegPKD consortium. Burgmaier K, et al. Among authors: patzer l. Kidney Int. 2021 Sep;100(3):650-659. doi: 10.1016/j.kint.2021.04.019. Epub 2021 Apr 30. Kidney Int. 2021. PMID: 33940108
Effects of Burosumab Treatment on Mineral Metabolism in Children and Adolescents With X-linked Hypophosphatemia.
Ewert A, Rehberg M, Schlingmann KP, Hiort O, John-Kroegel U, Metzing O, Wühl E, Schaefer F, Kemper MJ, Derichs U, Richter-Unruh A, Patzer L, Albers N, Dunstheimer D, Haberland H, Heger S, Schröder C, Jorch N, Schmid E, Staude H, Weitz M, Freiberg C, Leifheit-Nestler M, Zivicnjak M, Schnabel D, Haffner D. Ewert A, et al. Among authors: patzer l. J Clin Endocrinol Metab. 2023 Sep 18;108(10):e998-e1006. doi: 10.1210/clinem/dgad223. J Clin Endocrinol Metab. 2023. PMID: 37097907
Potential Benefit of Probiotic E. Coli Nissle in Term Neonates.
Olbertz D, Proquitté H, Patzer L, Erler T, Mikolajczak A, Sadowska-Krawczenko I, Wolff C, Radke M. Olbertz D, et al. Among authors: patzer l. Klin Padiatr. 2023 Jul;235(4):213-220. doi: 10.1055/a-1970-4340. Epub 2022 Nov 29. Klin Padiatr. 2023. PMID: 36446590 Free PMC article. Clinical Trial.
Correction: Potential Benefit of Probiotic E. Coli Nissle in Term Neonates.
Olbertz D, Proquitté H, Patzer L, Erler T, Mikolajczak A, Sadowska-Krawczenko I, Wolff C, Radke M. Olbertz D, et al. Among authors: patzer l. Klin Padiatr. 2023 Jul;235(4):e17. doi: 10.1055/a-1991-9977. Epub 2022 Dec 13. Klin Padiatr. 2023. PMID: 36513100 English. No abstract available.
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: patzer l. Clin Genet. 2024 Apr;105(4):406-414. doi: 10.1111/cge.14471. Epub 2024 Jan 12. Clin Genet. 2024. PMID: 38214412
Patients With Infantile Nephropathic Cystinosis in Germany and Austria: A Retrospective Cohort Study.
O'Connell N, Oh J, Arbeiter K, Büscher A, Haffner D, Kaufeld J, Kurschat C, Mache C, Müller D, Patzer L, Weber LT, Tönshoff B, Weitz M, Hohenfellner K, Pape L. O'Connell N, et al. Among authors: patzer l. Front Med (Lausanne). 2022 Apr 25;9:864554. doi: 10.3389/fmed.2022.864554. eCollection 2022. Front Med (Lausanne). 2022. PMID: 35547226 Free PMC article.
Renal X-inactivation in female individuals with X-linked Alport syndrome primarily determined by age.
Günthner R, Knipping L, Jeruschke S, Satanoskij R, Lorenz-Depiereux B, Hemmer C, Braunisch MC, Riedhammer KM, Ćomić J, Tönshoff B, Tasic V, Abazi-Emini N, Nushi-Stavileci V, Buiting K, Gjorgjievski N, Momirovska A, Patzer L, Kirschstein M, Gross O, Lungu A, Weber S, Renders L, Heemann U, Meitinger T, Büscher AK, Hoefele J. Günthner R, et al. Among authors: patzer l. Front Med (Lausanne). 2022 Oct 20;9:953643. doi: 10.3389/fmed.2022.953643. eCollection 2022. Front Med (Lausanne). 2022. PMID: 36341250 Free PMC article.
40 results