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Publications by Monika Ołdak

Clinical Diversity in Patients With Schnyder Corneal Dystrophy—a Novel and Known UBIAD1 Pathogenic Variants

Graefe's Archive for Clinical and Experimental Ophthalmology

Molecular Neuroscience

Sensory Systems

English

Genetic Basis of Hearing Loss

English

Related publications

Mutations in the UBIAD1 Gene, Encoding a Potential Prenyltransferase, Are Causal for Schnyder Crystalline Corneal Dystrophy

Multidisciplinary

English

Schnyder Corneal Dystrophy-Associated UBIAD1 Is Defective in MK-4 Synthesis and Resists Autophagy-Mediated Degradation

Journal of Lipid Research

English

Hereditary Crystalline Stromal Dystrophy of Schnyder. I. Clinical Features of a Family With Hyperlipoproteinaemia.

British Journal of Ophthalmology

Molecular Neuroscience

Sensory Systems

English

Novel Pathogenic Variants in a Cassette Exon of CCM2 in Patients With Cerebral Cavernous Malformations

Frontiers in Neurology

English

No Pathogenic Mutations Identified in theCOL8A2Gene or Four Positional Candidate Genes in Patients With Posterior Polymorphous Corneal Dystrophy

Investigative Ophthalmology and Visual Science

Molecular Neuroscience

Sensory Systems

English

Mutations in theUBIAD1Gene on Chromosome Short Arm 1, Region 36, Cause Schnyder Crystalline Corneal Dystrophy

Investigative Ophthalmology and Visual Science

Molecular Neuroscience

Sensory Systems

English

Homozygosity Mapping in Patients With Cone–Rod Dystrophy: Novel Mutations and Clinical Characterizations

Investigative Ophthalmology and Visual Science

Molecular Neuroscience

Sensory Systems

English

A Possible Novel TGFBI Mutation Ser591Phe in a Finnish Family With Lattice Corneal Dystrophy

Acta Ophthalmologica

English

Congenital Endothelial Corneal Dystrophy. Clinical, Pathological, and Genetic Study.

British Journal of Ophthalmology

Molecular Neuroscience

Sensory Systems

English