Ieva Micule

Riga, RIX, Latvia

Last Updated: 09/26/2026

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Found 26 publications

Abnormal ClC-3/TMEM9-mediated endosomal ion transport in CLCN3-associated neurodevelopmental disease.

Abnormal ClC-3/TMEM9-mediated endosomal ion transport in CLCN3-associated neurodevelopmental disease.

Journal: EMBO molecular medicine

Published: April 25, 2026

Genetic Analysis of CYP1B1 and Other Anterior Segment Dysgenesis-Associated Genes in Latvian Cohort of Primary Congenital Glaucoma.

Genetic Analysis of CYP1B1 and Other Anterior Segment Dysgenesis-Associated Genes in Latvian Cohort of Primary Congenital Glaucoma.

Journal: Biomedicines

Published: April 03, 2025

Mitochondrial cardiomyopathy with skeletal muscle myopathy caused by m.3260A > G mutation in MT-TL1 gene: a case report.

Mitochondrial cardiomyopathy with skeletal muscle myopathy caused by m.3260A > G mutation in MT-TL1 gene: a case report.

Journal: Journal of medical case reports

Published: November 05, 2024

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

The phenotypic spectrum of PTCD3 deficiency.

The phenotypic spectrum of PTCD3 deficiency.

Journal: JIMD reports

Published: February 26, 2024

Altered Splicing of LAMP2 in a Multigenerational Family from Latvia Affected by Danon Disease.

Altered Splicing of LAMP2 in a Multigenerational Family from Latvia Affected by Danon Disease.

Journal: Medicina (Kaunas, Lithuania)

Published: November 23, 2023

Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, genotype-phenotype correlations and common mechanisms.

Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, genotype-phenotype correlations and common mechanisms.

Journal: American journal of medical genetics. Part A

Published: March 23, 2023

The most common European HINT1 neuropathy variant phenotype and its case studies.

The most common European HINT1 neuropathy variant phenotype and its case studies.

Journal: Frontiers in neurology

Published: October 30, 2022

A novel frameshift variant in the ADA2 gene of a patient with a neurological phenotype: a case report.

A novel frameshift variant in the ADA2 gene of a patient with a neurological phenotype: a case report.

Journal: Pediatric rheumatology online journal

Published: September 27, 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

Implication of Genetic Testing and Pregnancy Outcome in a Woman with Unbalanced Translocation t(1;6).

Implication of Genetic Testing and Pregnancy Outcome in a Woman with Unbalanced Translocation t(1;6).

Journal: The American journal of case reports

Published: February 22, 2022

New-Born Screening for Spinal Muscular Atrophy: Results of a Latvian Pilot Study.

New-Born Screening for Spinal Muscular Atrophy: Results of a Latvian Pilot Study.

Journal: International journal of neonatal screening

Published: December 22, 2021

Showing 1-12 of 26

Last Updated: 09/26/2026