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DYNAMIKA REZISTENCE POPULACÍ VENTURIA INAEQUALIS KE STROBILURINOVÝM FUNGICIDŮM.
- Published in:
- Vedecke Prace Ovocnarske, 2023, v. 29, n. 2, p. 26, doi. 10.60702/51h2-8e88
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- Publication type:
- Article
MONITORING REZISTENCE VENTURIA INAEQUALIS K CYPRODINYLU A DIFENOKONAZOLU V ČR V LETECH 2020-2022.
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- Vedecke Prace Ovocnarske, 2022, v. 28, n. 2, p. 25
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- Publication type:
- Article
Case report: A rare variant m.4135T>C in the MT-ND1 gene leads to Leber hereditary optic neuropathy and altered respiratory chain supercomplexes.
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- Frontiers in Genetics, 2023, p. 1, doi. 10.3389/fgene.2023.1182288
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- Publication type:
- Article
Validation of rs2956540:G>C and rs3735520:G>A association with keratoconus in a population of European descent.
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- European Journal of Human Genetics, 2015, v. 23, n. 11, p. 1581, doi. 10.1038/ejhg.2015.28
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- Article
Disease-Causing TIMP3 Variants and Deep Phenotyping of Two Czech Families with Sorsby Fundus Dystrophy Associated with Novel p.(Tyr152Cys) Mutation.
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- International Journal of Molecular Sciences, 2024, v. 25, n. 7, p. 3744, doi. 10.3390/ijms25073744
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- Article
Blau Syndrome: Challenging Molecular Genetic Diagnostics of Autoinflammatory Disease.
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- Genes, 2024, v. 15, n. 6, p. 799, doi. 10.3390/genes15060799
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- Article
Should Patients with Kearns-Sayre Syndrome and Corneal Endothelial Failure Be Genotyped for a TCF4 Trinucleotide Repeat, Commonly Associated with Fuchs Endothelial Corneal Dystrophy?
- Published in:
- Genes, 2021, v. 12, n. 12, p. 1918, doi. 10.3390/genes12121918
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- Publication type:
- Article
Clinical and Genetic Study of X-Linked Juvenile Retinoschisis in the Czech Population.
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- Genes, 2021, v. 12, n. 11, p. 1816, doi. 10.3390/genes12111816
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- Publication type:
- Article
Non-Penetrance for Ocular Phenotype in Two Individuals Carrying Heterozygous Loss-of-Function ZEB1 Alleles.
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- Genes, 2021, v. 12, n. 5, p. 677, doi. 10.3390/genes12050677
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- Article
Posterior corneal vesicles are not associated with the genetic variants that cause posterior polymorphous corneal dystrophy.
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- Acta Ophthalmologica (1755375X), 2022, v. 100, n. 7, p. e1426, doi. 10.1111/aos.15114
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- Article
Novel disease‐causing variants and phenotypic features of X‐linked megalocornea.
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- Acta Ophthalmologica (1755375X), 2022, v. 100, n. 4, p. 431, doi. 10.1111/aos.15022
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- Publication type:
- Article
Pigmentary retinopathy can indicate the presence of pathogenic LAMP2 variants even in somatic mosaic carriers with no additional signs of Danon disease.
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- Acta Ophthalmologica (1755375X), 2021, v. 99, n. 1, p. 61, doi. 10.1111/aos.14478
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- Article
The aims and scopes of the ERN‐EYE.
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- Acta Ophthalmologica (1755375X), 2019, v. 97, p. N.PAG, doi. 10.1111/j.1755-3768.2019.8184
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- Publication type:
- Article
Atypical corneal endothelial dystrophy.
- Published in:
- Acta Ophthalmologica (1755375X), 2019, v. 97, p. N.PAG, doi. 10.1111/j.1755-3768.2019.8040
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- Publication type:
- Article
Megalocornea in the Czech Republic‐additional clinical features and novel disease‐causing variants.
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- Acta Ophthalmologica (1755375X), 2019, v. 97, p. N.PAG, doi. 10.1111/j.1755-3768.2019.8026
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- Publication type:
- Article
Familial aniridia spectrum in four families of Czech origin with PAX6 mutations.
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- Acta Ophthalmologica (1755375X), 2019, v. 97, p. N.PAG, doi. 10.1111/j.1755-3768.2019.5365
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- Publication type:
- Article
Paraproteinemic keratopathy associated with monoclonal gammopathy of undetermined significance (MGUS): clinical findings in twelve patients including recurrence after keratoplasty.
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- Acta Ophthalmologica (1755375X), 2019, v. 97, n. 7, p. e987, doi. 10.1111/aos.14123
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- Publication type:
- Article
Peripapillary microcirculation in Leber hereditary optic neuropathy.
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- Acta Ophthalmologica (1755375X), 2019, v. 97, n. 1, p. e71, doi. 10.1111/aos.13817
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- Publication type:
- Article
Analysis of <italic>KERA</italic> in four families with cornea plana identifies two novel mutations.
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- Acta Ophthalmologica (1755375X), 2018, v. 96, n. 1, p. e87, doi. 10.1111/aos.13484
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- Publication type:
- Article
OPA1 analysis in an international series of probands with bilateral optic atrophy.
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- Acta Ophthalmologica (1755375X), 2017, v. 95, n. 4, p. 363, doi. 10.1111/aos.13285
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- Publication type:
- Article
Novel OPA1 missense mutation in a family with optic atrophy and severe widespread neurological disorder.
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- Acta Ophthalmologica (1755375X), 2013, v. 91, n. 3, p. e225, doi. 10.1111/aos.12038
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- Publication type:
- Article
Keratoconus in 18 pairs of twins.
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- Acta Ophthalmologica (1755375X), 2012, v. 90, n. 6, p. e482, doi. 10.1111/j.1755-3768.2012.02448.x
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- Publication type:
- Article
Molecular genetic cause of X-linked retinitis pigmentosa in a Czech family.
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- Acta Ophthalmologica (1755375X), 2011, v. 89, n. 2, p. e213, doi. 10.1111/j.1755-3768.2009.01802.x
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- Publication type:
- Article
Brittle cornea syndrome: Disease-causing mutations in ZNF469 and two novel variants identified in a patient followed for 26 years.
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- Biomedical Papers of the Medical Faculty of Palacky University in Olomouc, 2020, v. 164, n. 2, p. 183, doi. 10.5507/bp.2019.017
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- Article
Current methods for monitoring Pseudomonas syringae biofilm development.
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- Letters in Applied Microbiology, 2024, v. 77, n. 2, p. 1, doi. 10.1093/lambio/ovae013
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- Article
Impact of electrolyte solution on electrochemical oxidation treatment of Escherichia coli K‐12 by boron‐doped diamond electrodes.
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- Letters in Applied Microbiology, 2022, v. 74, n. 6, p. 924, doi. 10.1111/lam.13687
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- Publication type:
- Article
MIR204 n.37C>T variant as a cause of chorioretinal dystrophy variably associated with iris coloboma, early‐onset cataracts and congenital glaucoma.
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- Clinical Genetics, 2023, v. 104, n. 4, p. 418, doi. 10.1111/cge.14391
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- Article
Expanding the phenotype spectrum associated with pathogenic variants in the COL2A1 and COL11A1 genes.
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- Annals of Human Genetics, 2020, v. 84, n. 5, p. 380, doi. 10.1111/ahg.12386
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- Publication type:
- Article
Identification of Six Novel Mutations in ZEB1 and Description of the Associated Phenotypes in Patients with Posterior Polymorphous Corneal Dystrophy 3.
- Published in:
- Annals of Human Genetics, 2015, v. 79, n. 1, p. 1, doi. 10.1111/ahg.12090
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- Publication type:
- Article
Dysfunction of peripheral somatic and autonomic nervous system in patients with severe forms of Crohn's disease on biological therapy with TNFα inhibitors–A single center study.
- Published in:
- PLoS ONE, 2023, v. 18, n. 11, p. 1, doi. 10.1371/journal.pone.0294441
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- Publication type:
- Article
Exome sequencing reveals IFT172 variants in patients with non-syndromic cholestatic liver disease.
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- PLoS ONE, 2023, v. 18, n. 7, p. 1, doi. 10.1371/journal.pone.0288907
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- Article
Schnyder corneal dystrophy and associated phenotypes caused by novel and recurrent mutations in the UBIAD1 gene.
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- 2018
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- Publication type:
- journal article
Phenotypic features of CRB1-associated early-onset severe retinal dystrophy and the different molecular approaches to identifying the disease-causing variants.
- Published in:
- Graefe's Archive of Clinical & Experimental Ophthalmology, 2016, v. 254, n. 9, p. 1833, doi. 10.1007/s00417-016-3358-2
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- Publication type:
- Article
Pseudodominant Nanophthalmos in a Roma Family Caused by a Novel PRSS56 Variant.
- Published in:
- Journal of Ophthalmology, 2020, p. 1, doi. 10.1155/2020/6807809
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- Publication type:
- Article
High Prevalence of Posterior Polymorphous Corneal Dystrophy in the Czech Republic; Linkage Disequilibrium Mapping and Dating an Ancestral Mutation.
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- PLoS ONE, 2012, v. 7, n. 9, p. 1, doi. 10.1371/journal.pone.0045495
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- Publication type:
- Article
The Phenotypic Spectrum of 47 Czech Patients with Single, Large-Scale Mitochondrial DNA Deletions.
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- Brain Sciences (2076-3425), 2020, v. 10, n. 11, p. 766, doi. 10.3390/brainsci10110766
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- Publication type:
- Article
Towards Uncovering the Role of Incomplete Penetrance in Maculopathies through Sequencing of 105 Disease-Associated Genes.
- Published in:
- Biomolecules (2218-273X), 2024, v. 14, n. 3, p. 367, doi. 10.3390/biom14030367
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- Publication type:
- Article
A multi-ethnic genome-wide association study implicates collagen matrix integrity and cell differentiation pathways in keratoconus.
- Published in:
- Communications Biology, 2021, v. 4, n. 1, p. 1, doi. 10.1038/s42003-021-01784-0
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- Publication type:
- Article
Association of Sex With Frequent and Mild ABCA4 Alleles in Stargardt Disease.
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- 2020
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- Publication type:
- journal article
Genetic Variants Associated With Corneal Biomechanical Properties and Potentially Conferring Susceptibility to Keratoconus in a Genome-Wide Association Study.
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- 2019
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- Publication type:
- journal article
Further genetic and clinical insights of posterior polymorphous corneal dystrophy 3.
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- 2013
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- Publication type:
- journal article
Analysis of FOXL2 detects three novel mutations and an atypical phenotype of blepharophimosis-ptosis-epicanthus inversus syndrome.
- Published in:
- Clinical & Experimental Ophthalmology, 2016, v. 44, n. 9, p. 757, doi. 10.1111/ceo.12783
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- Publication type:
- Article
Phenotype and genotype of concurrent keratoconus and Fuchs endothelial corneal dystrophy.
- Published in:
- Acta Ophthalmologica (1755375X), 2023, v. 101, n. 6, p. 679, doi. 10.1111/aos.15654
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- Publication type:
- Article
Snail track a in a case with anterior segment dysgenesis caused by a novel FOXC1 variant.
- Published in:
- Acta Ophthalmologica (1755375X), 2022, v. 100, p. N.PAG, doi. 10.1111/j.1755-3768.2022.0357
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- Publication type:
- Article
Leber congenital amaurosis and early onset severe retinal dystrophy in the Czech Republic: Mutational spectrum and clinical findings.
- Published in:
- 2022
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- Publication type:
- Abstract
Replication of SNP associations with keratoconus in a Czech cohort.
- Published in:
- 2017
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- Publication type:
- Case Study
Myxovirus Resistance Protein A mRNA Expression Kinetics in Multiple Sclerosis Patients Treated with IFNβ.
- Published in:
- PLoS ONE, 2017, v. 12, n. 1, p. 1, doi. 10.1371/journal.pone.0169957
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- Publication type:
- Article
Novel mutations in the ZEB1 gene identified in Czech and British patients with posterior polymorphous corneal dystrophy.
- Published in:
- Human Mutation, 2007, v. 28, n. 6, p. 638, doi. 10.1002/humu.9495
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- Publication type:
- Article
Novel SLC4A11 mutations in patients with recessive congenital hereditary endothelial dystrophy (CHED2).
- Published in:
- Human Mutation, 2007, v. 28, n. 5, p. 522, doi. 10.1002/humu.9487
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- Publication type:
- Article
Detailed Assessment of Renal Function in a Proband with Harboyan Syndrome Caused by a Novel Homozygous SLC4A11 Nonsense Mutation.
- Published in:
- Ophthalmic Research, 2015, v. 53, n. 1, p. 30, doi. 10.1159/000365109
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- Publication type:
- Article