Laura Mauring
Tartu, Estonia
Last Updated: 09/26/2026
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Found 9 publications
Long-term impact of FN1-related spondylometaphyseal dysplasia, corner fracture type (SMD-CF).
Journal: European journal of medical genetics
Published: May 19, 2026
Guidance (challenges and priorities) in the assessment of children with low vision: ERN-EYE clinical consensus statement.
Journal: Survey of ophthalmology
Published: November 11, 2025
De novo and inherited dominant variants in U4 and U6 snRNA genes cause retinitis pigmentosa.
Journal: Nature genetics
Published: June 02, 2025
De novo and inherited dominant variants in U4 and U6 snRNAs cause retinitis pigmentosa.
Journal: medRxiv : the preprint server for health sciences
Published: January 20, 2025
Autosomal recessive leber hereditary optic neuropathy in a choroideremia carrier. A case report.
Journal: European journal of ophthalmology
Published: May 08, 2024
Large-scale GWAS of strabismus identifies risk loci and provides support for a link with maternal smoking.
Journal: Nature communications
Published: August 22, 2023
Autosomal recessive Leber's hereditary optic neuropathy caused by a homozygous variant in DNAJC30 gene.
Journal: European journal of medical genetics
Published: February 14, 2023
The prevalence of inherited metabolic disorders in Estonian population over 30 years: A significant increase during study period.
Journal: JIMD reports
Published: June 29, 2022
Artificial iris implantation in congenital aniridia: A systematic review.
Journal: Survey of ophthalmology
Published: May 30, 2022
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Last Updated: 09/26/2026