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Artificial iris implantation in congenital aniridia: A systematic review.
Surv Ophthalmol. 2023 Jul-Aug;68(4):794-808. doi: 10.1016/j.survophthal.2022.11.001. Epub 2022 Nov 12.
Surv Ophthalmol. 2023.
PMID: 36379301
Free article.
The need for widely available genomic testing in rare eye diseases: an ERN-EYE position statement.
Black GC, Sergouniotis P, Sodi A, Leroy BP, Van Cauwenbergh C, Liskova P, Grønskov K, Klett A, Kohl S, Taurina G, Sukys M, Haer-Wigman L, Nowomiejska K, Marques JP, Leroux D, Cremers FPM, De Baere E, Dollfus H; ERN-EYE study group.
Black GC, et al.
Orphanet J Rare Dis. 2021 Mar 20;16(1):142. doi: 10.1186/s13023-021-01756-x.
Orphanet J Rare Dis. 2021.
PMID: 33743793
Free PMC article.
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Autosomal recessive Leber's hereditary optic neuropathy caused by a homozygous variant in DNAJC30 gene.
Mauring L, Puusepp S, Parik M, Roomets E, Teek R, Reimand T, Pajusalu S, Kaljurand K, Õunap K.
Mauring L, et al.
Eur J Med Genet. 2023 Sep;66(9):104821. doi: 10.1016/j.ejmg.2023.104821. Epub 2023 Aug 12.
Eur J Med Genet. 2023.
PMID: 37579815
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The prevalence of inherited metabolic disorders in Estonian population over 30 years: A significant increase during study period.
Tiivoja E, Reinson K, Muru K, Rähn K, Muhu K, Mauring L, Kahre T, Pajusalu S, Õunap K.
Tiivoja E, et al. Among authors: mauring l.
JIMD Rep. 2022 Aug 24;63(6):604-613. doi: 10.1002/jmd2.12325. eCollection 2022 Nov.
JIMD Rep. 2022.
PMID: 36341167
Free PMC article.
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Atypical Retinal Phenotype in a Patient With Alström Syndrome and Biallelic Novel Pathogenic Variants in ALMS1, Including a de novo Variation.
Mauring L, Porter LF, Pelletier V, Riehm A, Leuvrey AS, Gouronc A, Studer F, Stoetzel C, Dollfus H, Muller J.
Mauring L, et al.
Front Genet. 2020 Aug 21;11:938. doi: 10.3389/fgene.2020.00938. eCollection 2020.
Front Genet. 2020.
PMID: 32973878
Free PMC article.
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Sex differences in the development of diabetes in mice with deleted wolframin (Wfs1) gene.
Noormets K, Kõks S, Muldmaa M, Mauring L, Vasar E, Tillmann V.
Noormets K, et al. Among authors: mauring l.
Exp Clin Endocrinol Diabetes. 2011 May;119(5):271-5. doi: 10.1055/s-0030-1265163. Epub 2010 Oct 28.
Exp Clin Endocrinol Diabetes. 2011.
PMID: 21031341
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