Marta Lipska-Owczarek
Oldenburg, NI 26129, Germany
Last Updated: 09/26/2026
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Found 28 publications
Genetic Findings in Seven Cochlear Implanted Patients with Severe-to-Profound Hearing Loss.
Journal: Genes
Published: June 04, 2026
Molecular treatment options for patients carrying KIAA0586/TALPID3 variants.
Journal: Molecular therapy. Nucleic acids
Published: April 29, 2025
CACNB3 defects are associated with infantile idiopathic nystagmus.
Journal: Brain communications
Published: November 07, 2024
Pathogenic KIAA0586/TALPID3 variants are associated with defects in primary and motile cilia.
Journal: iScience
Published: June 19, 2024
Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function.
Journal: Nature genetics
Published: June 16, 2024
Skewed X-inactivation is associated with retinal dystrophy in female carriers of RPGR mutations.
Journal: Life science alliance
Published: November 09, 2022
A TARP Syndrome Phenotype Is Associated with a Novel Splicing Variant in RBM10.
Journal: Genes
Published: September 20, 2022
High-Throughput Sequencing to Identify Mutations Associated with Retinal Dystrophies.
Journal: Genes
Published: July 23, 2021
Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss.
Journal: American journal of human genetics
Published: May 28, 2021
A novel missense variant in the EML1 gene associated with bilateral ribbon-like subcortical heterotopia leads to ciliary defects.
Journal: Journal of human genetics
Published: March 08, 2021
Autosomal dominant optic atrophy: A novel treatment for OPA1 splice defects using U1 snRNA adaption.
Autosomal dominant optic atrophy: A novel treatment for OPA1 splice defects using U1 snRNA adaption.
Journal: Molecular therapy. Nucleic acids
Published: December 18, 2020
Translational Read-Through Therapy of RPGR Nonsense Mutations.
Journal: International journal of molecular sciences
Published: October 06, 2020
Last Updated: 09/26/2026