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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
2018 | 2 |
2019 | 1 |
2020 | 1 |
2021 | 2 |
2022 | 1 |
2024 | 0 |
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Page 1
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.
Familial Limbal Stem Cell Deficiency: Clinical, Cytological and Genetic Characterization.
Dudakova L, Cheong SS, Merjava SR, Skalicka P, Michalickova M, Palos M, Mahelkova G, Krizova D, Hlozanek M, Trkova M, Chojnowski JL, Hrdlickova E, Pontikos N, Plagnol V, Veselá V, Jirsova K, Hardcastle AJ, Filipec M, Lauderdale JD, Liskova P.
Dudakova L, et al.
Stem Cell Rev Rep. 2018 Feb;14(1):148-151. doi: 10.1007/s12015-017-9780-y.
Stem Cell Rev Rep. 2018.
PMID: 29134474
No abstract available.
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Amyotrophy, cerebellar impairment and psychiatric disease are the main symptoms in a cohort of 14 Czech patients with the late-onset form of Tay-Sachs disease.
Jahnová H, Poupětová H, Jirečková J, Vlášková H, Košťálová E, Mazanec R, Zumrová A, Mečíř P, Mušová Z, Magner M.
Jahnová H, et al.
J Neurol. 2019 Aug;266(8):1953-1959. doi: 10.1007/s00415-019-09364-3. Epub 2019 May 10.
J Neurol. 2019.
PMID: 31076878
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Schnyder corneal dystrophy and associated phenotypes caused by novel and recurrent mutations in the UBIAD1 gene.
Evans CJ, Dudakova L, Skalicka P, Mahelkova G, Horinek A, Hardcastle AJ, Tuft SJ, Liskova P.
Evans CJ, et al.
BMC Ophthalmol. 2018 Sep 17;18(1):250. doi: 10.1186/s12886-018-0918-8.
BMC Ophthalmol. 2018.
PMID: 30223810
Free PMC article.
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Pigmentary retinopathy can indicate the presence of pathogenic LAMP2 variants even in somatic mosaic carriers with no additional signs of Danon disease.
Kousal B, Majer F, Vlaskova H, Dvorakova L, Piherova L, Meliska M, Langrova H, Palecek T, Kubanek M, Krebsova A, Gurka J, Stara V, Michaelides M, Kalina T, Sikora J, Liskova P.
Kousal B, et al.
Acta Ophthalmol. 2021 Feb;99(1):61-68. doi: 10.1111/aos.14478. Epub 2020 Jun 13.
Acta Ophthalmol. 2021.
PMID: 32533651
Free article.
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