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

Year Number of Results
2004 1
2005 4
2006 5
2007 3
2008 2
2009 2
2010 3
2011 2
2012 4
2013 3
2014 4
2015 2
2016 3
2017 7
2018 6
2019 5
2020 2
2021 4
2022 1
2023 7
2024 2

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62 results

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Page 1
Prevalence and characteristics of genetic disease in adult kidney stone formers.
Anderegg MA, Olinger EG, Bargagli M, Geraghty R, Taylor L, Nater A, Bruggmann R, Sayer JA, Vogt B, Schaller A, Fuster DG. Anderegg MA, et al. Among authors: schaller a. Nephrol Dial Transplant. 2024 Mar 27:gfae074. doi: 10.1093/ndt/gfae074. Online ahead of print. Nephrol Dial Transplant. 2024. PMID: 38544324 Free article.
Expanding the p.(Arg85Trp) Variant-Specific Phenotype of HNF4A: Features of Glycogen Storage Disease, Liver Cirrhosis, Impaired Mitochondrial Function, and Glomerular Changes.
Grassi M, Laubscher B, Pandey AV, Tschumi S, Graber F, Schaller A, Janner M, Aeberli D, Hewer E, Nuoffer JM, Gautschi M. Grassi M, et al. Among authors: schaller a. Mol Syndromol. 2023 Aug;14(4):347-361. doi: 10.1159/000529306. Epub 2023 Apr 12. Mol Syndromol. 2023. PMID: 37766831 Free PMC article.
Biallelic variants in DNA2 cause poikiloderma with congenital cataracts and severe growth failure reminiscent of Rothmund-Thomson syndrome.
Di Lazzaro Filho R, Yamamoto GL, Silva TJ, Rocha LA, Linnenkamp BDW, Castro MAA, Bartholdi D, Schaller A, Leeb T, Kelmann S, Utagawa CY, Steiner CE, Steinmetz L, Honjo RS, Kim CA, Wang L, Abourjaili-Bilodeau R, Campeau PM, Warman M, Passos-Bueno MR, Hoch NC, Bertola DR. Di Lazzaro Filho R, et al. Among authors: schaller a. J Med Genet. 2023 Nov;60(11):1127-1132. doi: 10.1136/jmg-2022-109119. Epub 2023 Apr 13. J Med Genet. 2023. PMID: 37055165
Triheptanoin - Novel therapeutic approach for the ultra-rare disease mitochondrial malate dehydrogenase deficiency.
Laemmle A, Steck AL, Schaller A, Kurth S, Perret Hoigné E, Felser AD, Slavova N, Salvisberg C, Atencio M, Mochel F, Nuoffer JM, Gautschi M. Laemmle A, et al. Among authors: schaller a. Mol Genet Metab Rep. 2021 Oct 19;29:100814. doi: 10.1016/j.ymgmr.2021.100814. eCollection 2021 Dec. Mol Genet Metab Rep. 2021. PMID: 34712577 Free PMC article.
62 results