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Karit Reinson

Showing results (1-10 of 35) with videos related to

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Pediatric Neurology Briefs|December 14, 2016
Ocular Manifestation of <i>CACNA1A</i> Pathogenic VariantsKarit Reinson, Katrin Õunap
EMBO Molecular Medicine|October 30, 2020
Complex I deficiency and Leigh syndrome through the eyes of a clinicianKarit Reinson, Katrin Õunap
Molecular Genetics and Metabolism Reports|February 2, 2018
High incidence of low vitamin B12 levels in Estonian newbornsKarit Reinson, Kadi Künnapas, Annika Kriisa, et al.
JIMD Reports|September 29, 2017
Hyperphenylalaninaemias in Estonia: Genotype-Phenotype Correlation and Comparative Overview of the Patient Cohort Before and After Nation-Wide Neonatal ScreeningHardo Lilleväli, Karit Reinson, Kai Muru, et al.
Molecular Genetics and Metabolism Reports|April 10, 2019
The evaluation of phenylalanine levels in Estonian phenylketonuria patients during eight years by electronic laboratory recordsHardo Lilleväli, Karit Reinson, Kai Muru, et al.
Journal of Inherited Metabolic Disease|November 12, 2024
Current global vitamin and cofactor prescribing practices for primary mitochondrial diseases: Results of a European reference network surveyJulia Neugebauer, Karit Reinson, Marcello Bellusci, et al.
JIMD Reports|November 7, 2022
The prevalence of inherited metabolic disorders in Estonian population over 30 years: A significant increase during study periodElis Tiivoja, Karit Reinson, Kai Muru, et al.
Molecular Genetics and Metabolism Reports|December 9, 2020
Atypical presentation of Arts syndrome due to a novel hemizygous loss-of-function variant in the <i>PRPS1</i> geneSanna Puusepp, Karit Reinson, Sander Pajusalu, et al.
Molecular Genetics & Genomic Medicine|August 9, 2019
FLAD1-associated multiple acyl-CoA dehydrogenase deficiency identified by newborn screeningKai Muru, Karit Reinson, Kadi Künnapas, et al.
Pediatric Reports|January 21, 2026
Nationwide Study of Pediatric Drug-Resistant Epilepsy in Estonia: Lower Incidence and Insights into EtiologyStella Lilles, Klari Heidmets, Kaisa Teele Oja, et al.
Pageof 4

Showing results (1-10 of 35) with videos related to

Sort By:
Pageof 4
Pediatric Neurology Briefs|December 14, 2016
Ocular Manifestation of <i>CACNA1A</i> Pathogenic VariantsKarit Reinson, Katrin Õunap
EMBO Molecular Medicine|October 30, 2020
Complex I deficiency and Leigh syndrome through the eyes of a clinicianKarit Reinson, Katrin Õunap
Molecular Genetics and Metabolism Reports|February 2, 2018
High incidence of low vitamin B12 levels in Estonian newbornsKarit Reinson, Kadi Künnapas, Annika Kriisa, et al.
JIMD Reports|September 29, 2017
Hyperphenylalaninaemias in Estonia: Genotype-Phenotype Correlation and Comparative Overview of the Patient Cohort Before and After Nation-Wide Neonatal ScreeningHardo Lilleväli, Karit Reinson, Kai Muru, et al.
Molecular Genetics and Metabolism Reports|April 10, 2019
The evaluation of phenylalanine levels in Estonian phenylketonuria patients during eight years by electronic laboratory recordsHardo Lilleväli, Karit Reinson, Kai Muru, et al.
Journal of Inherited Metabolic Disease|November 12, 2024
Current global vitamin and cofactor prescribing practices for primary mitochondrial diseases: Results of a European reference network surveyJulia Neugebauer, Karit Reinson, Marcello Bellusci, et al.
JIMD Reports|November 7, 2022
The prevalence of inherited metabolic disorders in Estonian population over 30 years: A significant increase during study periodElis Tiivoja, Karit Reinson, Kai Muru, et al.
Molecular Genetics and Metabolism Reports|December 9, 2020
Atypical presentation of Arts syndrome due to a novel hemizygous loss-of-function variant in the <i>PRPS1</i> geneSanna Puusepp, Karit Reinson, Sander Pajusalu, et al.
Molecular Genetics & Genomic Medicine|August 9, 2019
FLAD1-associated multiple acyl-CoA dehydrogenase deficiency identified by newborn screeningKai Muru, Karit Reinson, Kadi Künnapas, et al.
Pediatric Reports|January 21, 2026
Nationwide Study of Pediatric Drug-Resistant Epilepsy in Estonia: Lower Incidence and Insights into EtiologyStella Lilles, Klari Heidmets, Kaisa Teele Oja, et al.
Pageof 4