Karit Reinson

2 L. Puusepa Street
Tartu, 51014, Estonia

Last Updated: 09/26/2026

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Found 38 publications

Features and Legal Practice of Dried Blood Spot Card Biobanking in Europe: Balancing Research Potential with Parental and Children's Rights.

Features and Legal Practice of Dried Blood Spot Card Biobanking in Europe: Balancing Research Potential with Parental and Children's Rights.

Journal: International journal of neonatal screening

Published: May 07, 2026

Bi-allelic variants in the ribosomal protein RPS6KC1 cause a complex neurodevelopmental disorder.

Bi-allelic variants in the ribosomal protein RPS6KC1 cause a complex neurodevelopmental disorder.

Journal: American journal of human genetics

Published: April 05, 2026

Population-Based Study of Drug-Resistant Epilepsy Before Age Two: Predominance of Developmental and Epileptic Encephalopathies.

Population-Based Study of Drug-Resistant Epilepsy Before Age Two: Predominance of Developmental and Epileptic Encephalopathies.

Journal: Neurology international

Published: March 10, 2026

Expanding the ABCA2-associated neurodevelopmental phenotype.

Expanding the ABCA2-associated neurodevelopmental phenotype.

Journal: HGG advances

Published: February 19, 2026

Neonatal developmental and epileptic encephalopathy with movement disorder and arthrogryposis: A shared phenotype across brain-expressed sodium channelopathies.

Neonatal developmental and epileptic encephalopathy with movement disorder and arthrogryposis: A shared phenotype across brain-expressed sodium channelopathies.

Journal: Epilepsia

Published: October 31, 2025

Nationwide Study of Pediatric Drug-Resistant Epilepsy in Estonia: Lower Incidence and Insights into Etiology.

Nationwide Study of Pediatric Drug-Resistant Epilepsy in Estonia: Lower Incidence and Insights into Etiology.

Journal: Pediatric reports

Published: October 27, 2025

Exploratory analysis of epilepsy biomarkers using untargeted metabolomics across multiple cohorts.

Exploratory analysis of epilepsy biomarkers using untargeted metabolomics across multiple cohorts.

Journal: Frontiers in neurology

Published: August 12, 2025

Bi-allelic variants in the ribosomal protein RPS6KC1 cause a complex neurodevelopmental disorder.

Bi-allelic variants in the ribosomal protein RPS6KC1 cause a complex neurodevelopmental disorder.

Journal: American journal of human genetics

Published: July 31, 2024

Current global vitamin and cofactor prescribing practices for primary mitochondrial diseases: Results of a European reference network survey.

Current global vitamin and cofactor prescribing practices for primary mitochondrial diseases: Results of a European reference network survey.

Journal: Journal of inherited metabolic disease

Published: July 12, 2024

Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function.

Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function.

Journal: Nature genetics

Published: June 16, 2024

Genome Sequencing for Diagnosing Rare Diseases.

Genome Sequencing for Diagnosing Rare Diseases.

Journal: The New England journal of medicine

Published: June 05, 2024

Unique Capabilities of Genome Sequencing for Rare Disease Diagnosis.

Unique Capabilities of Genome Sequencing for Rare Disease Diagnosis.

Journal: medRxiv : the preprint server for health sciences

Published: February 08, 2024

Showing 1-12 of 38

Last Updated: 09/26/2026