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Towards Uncovering the Role of Incomplete Penetrance in Maculopathies through Sequencing of 105 Disease-Associated Genes.
Biomolecules. 2024 Mar 19;14(3):367. doi: 10.3390/biom14030367.
Biomolecules. 2024.
PMID: 38540785
Free PMC article.
MIR204 n.37C>T variant as a cause of chorioretinal dystrophy variably associated with iris coloboma, early-onset cataracts and congenital glaucoma.
Jedlickova J, Vajter M, Barta T, Black GCM, Perveen R, Mares J, Fichtl M, Kousal B, Dudakova L, Liskova P.
Jedlickova J, et al. Among authors: vajter m.
Clin Genet. 2023 Oct;104(4):418-426. doi: 10.1111/cge.14391. Epub 2023 Jun 15.
Clin Genet. 2023.
PMID: 37321975
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Disease-Causing TIMP3 Variants and Deep Phenotyping of Two Czech Families with Sorsby Fundus Dystrophy Associated with Novel p.(Tyr152Cys) Mutation.
Vergaro A, Pankievic M, Jedlickova J, Dudakova L, Vajter M, Michaelides M, Meliska M, Nemec P, Babincova D, Kousal B, Liskova P.
Vergaro A, et al. Among authors: vajter m.
Int J Mol Sci. 2024 Mar 27;25(7):3744. doi: 10.3390/ijms25073744.
Int J Mol Sci. 2024.
PMID: 38612555
Free PMC article.
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Representation of Women Among Individuals With Mild Variants in ABCA4-Associated Retinopathy: A Meta-Analysis.
Cornelis SS, IntHout J, Runhart EH, Grunewald O, Lin S, Corradi Z, Khan M, Hitti-Malin RJ, Whelan L, Farrar GJ, Sharon D, van den Born LI, Arno G, Simcoe M, Michaelides M, Webster AR, Roosing S, Mahroo OA, Dhaenens CM, Cremers FPM; Study Group.
Cornelis SS, et al.
JAMA Ophthalmol. 2024 May 1;142(5):463-471. doi: 10.1001/jamaophthalmol.2024.0660.
JAMA Ophthalmol. 2024.
PMID: 38602673
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Real-World Safety and Effectiveness of Voretigene Neparvovec: Results up to 2 Years from the Prospective, Registry-Based PERCEIVE Study.
Fischer MD, Simonelli F, Sahni J, Holz FG, Maier R, Fasser C, Suhner A, Stiehl DP, Chen B, Audo I, Leroy BP; PERCEIVE Study Group.
Fischer MD, et al.
Biomolecules. 2024 Jan 17;14(1):122. doi: 10.3390/biom14010122.
Biomolecules. 2024.
PMID: 38254722
Free PMC article.
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