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Sander Pajusalu

Showing results (11-20 of 81) with videos related to

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Journal of Child Neurology|July 10, 2023
High Prevalence of Collagenopathies in Preterm- and Term-Born Children With Periventricular Venous Hemorrhagic InfarctionNorman Ilves, Sander Pajusalu, Tiina Kahre, et al.
Neurology. Genetics|January 14, 2025
<i>TTN</i>-Related Muscular Dystrophies, LGMD, and TMD, in an Estonian Family Caused by the Finnish Founder VariantKatrin Õunap, Tiia Reimand, Eve Õiglane-Shlik, et al.
European Journal of Medical Genetics|May 4, 2019
PEHO syndrome caused by compound heterozygote variants in ZNHIT3 geneKatrin Õunap, Kai Muru, Eve Õiglane-Shlik, et al.
Frontiers in Genetics|March 14, 2022
Monogenic Versus Multifactorial Inheritance in the Development of Isolated Cleft Palate: A Whole Genome Sequencing StudyBaiba Lace, Sander Pajusalu, Diana Livcane, 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 Syndromology|January 7, 2016
The Diagnostic Utility of Single Long Contiguous Stretches of Homozygosity in Patients without Parental ConsanguinitySander Pajusalu, Olga Žilina, Maria Yakoreva, 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.
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.
Pageof 9

Showing results (11-20 of 81) with videos related to

Sort By:
Pageof 9
Journal of Child Neurology|July 10, 2023
High Prevalence of Collagenopathies in Preterm- and Term-Born Children With Periventricular Venous Hemorrhagic InfarctionNorman Ilves, Sander Pajusalu, Tiina Kahre, et al.
Neurology. Genetics|January 14, 2025
<i>TTN</i>-Related Muscular Dystrophies, LGMD, and TMD, in an Estonian Family Caused by the Finnish Founder VariantKatrin Õunap, Tiia Reimand, Eve Õiglane-Shlik, et al.
European Journal of Medical Genetics|May 4, 2019
PEHO syndrome caused by compound heterozygote variants in ZNHIT3 geneKatrin Õunap, Kai Muru, Eve Õiglane-Shlik, et al.
Frontiers in Genetics|March 14, 2022
Monogenic Versus Multifactorial Inheritance in the Development of Isolated Cleft Palate: A Whole Genome Sequencing StudyBaiba Lace, Sander Pajusalu, Diana Livcane, 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 Syndromology|January 7, 2016
The Diagnostic Utility of Single Long Contiguous Stretches of Homozygosity in Patients without Parental ConsanguinitySander Pajusalu, Olga Žilina, Maria Yakoreva, 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.
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.
Pageof 9