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Karit Reinson

Showing results (11-20 of 35) with videos related to

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Molecular Genetics and Metabolism Reports|July 17, 2018
Effectiveness of whole exome sequencing in unsolved patients with a clinical suspicion of a mitochondrial disorder in EstoniaSanna Puusepp, Karit Reinson, Sander Pajusalu, et al.
Neurology International|May 26, 2026
Population-Based Study of Drug-Resistant Epilepsy Before Age Two: Predominance of Developmental and Epileptic EncephalopathiesStella Lilles, Klari Heidmets, Kaisa Teele Oja, et al.
American Journal of Medical Genetics. Part A|June 3, 2016
Biallelic CACNA1A mutations cause early onset epileptic encephalopathy with progressive cerebral, cerebellar, and optic nerve atrophyKarit Reinson, Eve Õiglane-Shlik, Inga Talvik, et al.
European Journal of Human Genetics : EJHG|June 13, 2019
A retrospective analysis of the prevalence of imprinting disorders in Estonia from 1998 to 2016Maria Yakoreva, Tiina Kahre, Riina Žordania, et al.
Medrxiv : the Preprint Server for Health Sciences|April 10, 2023
Untargeted metabolomics profiling in pediatric patients and adult populations indicates a connection between lipid imbalance and epilepsyKaisa Teele Oja, Mihkel Ilisson, Karit Reinson, et al.
European Journal of Medical Genetics|November 14, 2018
Diverse phenotype in patients with complex I deficiency due to mutations in NDUFB11Karit Reinson, Reka Kovacs-Nagy, Eve Õiglane-Shlik, et al.
Frontiers in Neurology|December 17, 2025
Exploratory analysis of epilepsy biomarkers using untargeted metabolomics across multiple cohortsKaisa T Oja, Mihkel Ilisson, Karit Reinson, et al.
Human Molecular Genetics|March 24, 2020
Distinct effects on mRNA export factor GANP underlie neurological disease phenotypes and alter gene expression depending on intron contentRosa Woldegebriel, Jouni Kvist, Noora Andersson, et al.
European Journal of Human Genetics : EJHG|October 11, 2020
Regulatory landscape of providing information on newborn screening to parents across EuropeVěra Franková, Riona O Driscoll, Marleen E Jansen, et al.
American Journal of Human Genetics|December 3, 2016
Recurrent De Novo Dominant Mutations in SLC25A4 Cause Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy NumberKyle Thompson, Homa Majd, Cristina Dallabona, et al.
Pageof 4

Showing results (11-20 of 35) with videos related to

Sort By:
Pageof 4
Molecular Genetics and Metabolism Reports|July 17, 2018
Effectiveness of whole exome sequencing in unsolved patients with a clinical suspicion of a mitochondrial disorder in EstoniaSanna Puusepp, Karit Reinson, Sander Pajusalu, et al.
Neurology International|May 26, 2026
Population-Based Study of Drug-Resistant Epilepsy Before Age Two: Predominance of Developmental and Epileptic EncephalopathiesStella Lilles, Klari Heidmets, Kaisa Teele Oja, et al.
American Journal of Medical Genetics. Part A|June 3, 2016
Biallelic CACNA1A mutations cause early onset epileptic encephalopathy with progressive cerebral, cerebellar, and optic nerve atrophyKarit Reinson, Eve Õiglane-Shlik, Inga Talvik, et al.
European Journal of Human Genetics : EJHG|June 13, 2019
A retrospective analysis of the prevalence of imprinting disorders in Estonia from 1998 to 2016Maria Yakoreva, Tiina Kahre, Riina Žordania, et al.
Medrxiv : the Preprint Server for Health Sciences|April 10, 2023
Untargeted metabolomics profiling in pediatric patients and adult populations indicates a connection between lipid imbalance and epilepsyKaisa Teele Oja, Mihkel Ilisson, Karit Reinson, et al.
European Journal of Medical Genetics|November 14, 2018
Diverse phenotype in patients with complex I deficiency due to mutations in NDUFB11Karit Reinson, Reka Kovacs-Nagy, Eve Õiglane-Shlik, et al.
Frontiers in Neurology|December 17, 2025
Exploratory analysis of epilepsy biomarkers using untargeted metabolomics across multiple cohortsKaisa T Oja, Mihkel Ilisson, Karit Reinson, et al.
Human Molecular Genetics|March 24, 2020
Distinct effects on mRNA export factor GANP underlie neurological disease phenotypes and alter gene expression depending on intron contentRosa Woldegebriel, Jouni Kvist, Noora Andersson, et al.
European Journal of Human Genetics : EJHG|October 11, 2020
Regulatory landscape of providing information on newborn screening to parents across EuropeVěra Franková, Riona O Driscoll, Marleen E Jansen, et al.
American Journal of Human Genetics|December 3, 2016
Recurrent De Novo Dominant Mutations in SLC25A4 Cause Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy NumberKyle Thompson, Homa Majd, Cristina Dallabona, et al.
Pageof 4