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Year | Number of Results |
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2021 | 1 |
2022 | 1 |
2023 | 1 |
2024 | 2 |
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Novel disease-causing variants and phenotypic features of X-linked megalocornea.
Acta Ophthalmol. 2022 Jun;100(4):431-439. doi: 10.1111/aos.15022. Epub 2021 Oct 13.
Acta Ophthalmol. 2022.
PMID: 34644435
Free article.
Adenotonsillar pathology in mucopolysaccharidoses - lysosomal storage predominates in paracortical CD63+ cells.
Murgasova L, Hulkova H, Baresova V, Jurovcik M, Stritesky J, Jurickova K, Magner M, Sikora J.
Murgasova L, et al.
Virchows Arch. 2024 Jan;484(1):135-140. doi: 10.1007/s00428-023-03662-y. Epub 2023 Oct 3.
Virchows Arch. 2024.
PMID: 37787787
Free PMC article.
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Eight-fold increased COVID-19 mortality in autosomal dominant tubulointerstitial kidney disease due to MUC1 mutations: an observational study.
Kidd KO, Williams AH, Taylor A, Martin L, Robins V, Sayer JA, Olinger E, Mabillard HR, Papagregoriou G, Deltas C, Stavrou C, Conlon PJ, Hogan RE, Elhassan EAE, Springer D, Zima T, Izzi C, Vrbacká A, Piherová L, Pohludka M, Radina M, Vylet'al P, Hodanova K, Zivna M, Kmoch S, Bleyer AJ Sr.
Kidd KO, et al.
BMC Nephrol. 2024 Dec 18;25(1):449. doi: 10.1186/s12882-024-03896-1.
BMC Nephrol. 2024.
PMID: 39696072
Free PMC article.
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