Gita Taurina

Riga, RIX, Latvia

Last Updated: 09/26/2026

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Found 18 publications

Patient with two rare diseases-Renal coloboma syndrome and craniopharyngioma.

Patient with two rare diseases-Renal coloboma syndrome and craniopharyngioma.

Journal: Radiology case reports

Published: February 15, 2026

Monoallelic loss-of-function variants in ZNF536 are associated with a neurodevelopmental disorder with prominent behavioral features.

Monoallelic loss-of-function variants in ZNF536 are associated with a neurodevelopmental disorder with prominent behavioral features.

Journal: American journal of human genetics

Published: February 06, 2026

De novo and inherited dominant variants in U4 and U6 snRNA genes cause retinitis pigmentosa.

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.

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

Genome and transcriptome sequencing for inborn errors of immunity: a feasible multi-omics diagnostic approach.

Genome and transcriptome sequencing for inborn errors of immunity: a feasible multi-omics diagnostic approach.

Journal: Frontiers in immunology

Published: October 12, 2024

Characterization of severe COL6-related dystrophy due to the recurrent variant COL6A1 c.930+189C>T.

Characterization of severe COL6-related dystrophy due to the recurrent variant COL6A1 c.930+189C>T.

Journal: Brain : a journal of neurology

Published: October 03, 2024

The recurrent deep intronic pseudoexon-inducing variant COL6A1 c.930+189C>T results in a consistently severe phenotype of COL6-related dystrophy: Towards clinical trial readiness for splice-modulating therapy.

The recurrent deep intronic pseudoexon-inducing variant COL6A1 c.930+189C>T results in a consistently severe phenotype of COL6-related dystrophy: Towards clinical trial readiness for splice-modulating therapy.

Journal: medRxiv : the preprint server for health sciences

Published: April 08, 2024

Towards Uncovering the Role of Incomplete Penetrance in Maculopathies through Sequencing of 105 Disease-Associated Genes.

Towards Uncovering the Role of Incomplete Penetrance in Maculopathies through Sequencing of 105 Disease-Associated Genes.

Journal: Biomolecules

Published: January 29, 2024

Mother and Daughter with Short Stature, Microcephaly, Mild Dysmorphic Features, and Learning Disabilities Due to Ververi-Brady Syndrome Associated with a New Variant of the QRICH1 Gene.

Mother and Daughter with Short Stature, Microcephaly, Mild Dysmorphic Features, and Learning Disabilities Due to Ververi-Brady Syndrome Associated with a New Variant of the QRICH1 Gene.

Journal: The American journal of case reports

Published: May 22, 2023

The First Registered Type 0 Spinal Muscular Atrophy Patient in Latvia: Call for Change in Prenatal Diagnostic Procedures.

The First Registered Type 0 Spinal Muscular Atrophy Patient in Latvia: Call for Change in Prenatal Diagnostic Procedures.

Journal: Case reports in medicine

Published: February 16, 2023

Clinical and Genetic Characterisation of Cystic Fibrosis Patients in Latvia: A Twenty-Five-Year Experience.

Clinical and Genetic Characterisation of Cystic Fibrosis Patients in Latvia: A Twenty-Five-Year Experience.

Journal: Diagnostics (Basel, Switzerland)

Published: October 26, 2022

Clinical and genetic characterization of Netherton syndrome due to SPINK5 founder variant in Latvian population.

Clinical and genetic characterization of Netherton syndrome due to SPINK5 founder variant in Latvian population.

Journal: Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology

Published: July 28, 2022

Showing 1-12 of 18

Last Updated: 09/26/2026