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Sander Pajusalu

Showing results (31-40 of 81) with videos related to

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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.
Neuromuscular Disorders : NMD|January 20, 2016
De novo exonic mutation in MYH7 gene leading to exon skipping in a patient with early onset muscular weakness and fiber-type disproportionSander Pajusalu, Inga Talvik, Klari Noormets, et al.
Frontiers in Genetics|February 28, 2022
Case Report: Two Families With <i>HPDL</i> Related NeurodegenerationIeva Micule, Baiba Lace, Nathan T Wright, 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.
Frontiers in Immunology|April 14, 2025
Genome and transcriptome sequencing for inborn errors of immunity: a feasible multi-omics diagnostic approachMarija Rozevska, Katrina Daila Neiburga-Vigante, Inga Nartisa, 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.
NPJ Genomic Medicine|September 23, 2020
A three-year follow-up study evaluating clinical utility of exome sequencing and diagnostic potential of reanalysisJasmine L F Fung, Mullin H C Yu, Shushu Huang, 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.
Cancers|July 29, 2023
The Prevalence and Molecular Landscape of Lynch Syndrome in the Affected and General PopulationLaura Roht, Piret Laidre, Mikk Tooming, et al.
Acta Oncologica (Stockholm, Sweden)|May 18, 2026
Exploring the somatic mutational landscape of ovarian cancer in EstoniaMikk Tooming, Kadri Rekker, Kadri Toome, et al.
Pageof 9

Showing results (31-40 of 81) with videos related to

Sort By:
Pageof 9
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.
Neuromuscular Disorders : NMD|January 20, 2016
De novo exonic mutation in MYH7 gene leading to exon skipping in a patient with early onset muscular weakness and fiber-type disproportionSander Pajusalu, Inga Talvik, Klari Noormets, et al.
Frontiers in Genetics|February 28, 2022
Case Report: Two Families With <i>HPDL</i> Related NeurodegenerationIeva Micule, Baiba Lace, Nathan T Wright, 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.
Frontiers in Immunology|April 14, 2025
Genome and transcriptome sequencing for inborn errors of immunity: a feasible multi-omics diagnostic approachMarija Rozevska, Katrina Daila Neiburga-Vigante, Inga Nartisa, 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.
NPJ Genomic Medicine|September 23, 2020
A three-year follow-up study evaluating clinical utility of exome sequencing and diagnostic potential of reanalysisJasmine L F Fung, Mullin H C Yu, Shushu Huang, 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.
Cancers|July 29, 2023
The Prevalence and Molecular Landscape of Lynch Syndrome in the Affected and General PopulationLaura Roht, Piret Laidre, Mikk Tooming, et al.
Acta Oncologica (Stockholm, Sweden)|May 18, 2026
Exploring the somatic mutational landscape of ovarian cancer in EstoniaMikk Tooming, Kadri Rekker, Kadri Toome, et al.
Pageof 9