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Sander Pajusalu

Showing results (21-30 of 81) with videos related to

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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.
Molecular Genetics & Genomic Medicine|February 6, 2020
Genome sequencing identifies a homozygous inversion disrupting QDPR as a cause for dihydropteridine reductase deficiencyHardo Lilleväli, Sander Pajusalu, Monica H Wojcik, et al.
FEBS Letters|October 19, 2019
A missense mutation in the catalytic domain of O-GlcNAc transferase links perturbations in protein O-GlcNAcylation to X-linked intellectual disabilityVeronica M Pravata, Mehmet Gundogdu, Sergio G Bartual, et al.
Molecular Genetics & Genomic Medicine|September 6, 2021
A two-year prospective study assessing the performance of fetal chromosomal microarray analysis and next-generation sequencing in high-risk pregnanciesKonstantin Ridnõi, Kai Muru, Maria Keernik, et al.
Frontiers in Genetics|January 10, 2022
The Birth Prevalence of Spinal Muscular Atrophy: A Population Specific Approach in EstoniaSiiri Sarv, Tiina Kahre, Eve Vaidla, et al.
BMJ Open|May 27, 2026
Pragmatic trial assessing polygenic risk driven statin therapy for cardiovascular disease prevention: study protocol for the EE-PRS trialAve Voit, Aet Elken, Margus Viigimaa, 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.
JIMD Reports|November 15, 2024
The phenotypic spectrum of <i>PTCD3</i> deficiencyBaiba Lace, Eissa Faqeih, Namik Kaya, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 21, 2019
Estimating prevalence for limb-girdle muscular dystrophy based on public sequencing databasesWei Liu, Sander Pajusalu, Nicole J Lake, et al.
Annals of Neurology|April 27, 2019
Novel mutations in MYBPC1 are associated with myogenic tremor and mild myopathyJanis Stavusis, Baiba Lace, Jochen Schäfer, et al.
Pageof 9

Showing results (21-30 of 81) with videos related to

Sort By:
Pageof 9
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.
Molecular Genetics & Genomic Medicine|February 6, 2020
Genome sequencing identifies a homozygous inversion disrupting QDPR as a cause for dihydropteridine reductase deficiencyHardo Lilleväli, Sander Pajusalu, Monica H Wojcik, et al.
FEBS Letters|October 19, 2019
A missense mutation in the catalytic domain of O-GlcNAc transferase links perturbations in protein O-GlcNAcylation to X-linked intellectual disabilityVeronica M Pravata, Mehmet Gundogdu, Sergio G Bartual, et al.
Molecular Genetics & Genomic Medicine|September 6, 2021
A two-year prospective study assessing the performance of fetal chromosomal microarray analysis and next-generation sequencing in high-risk pregnanciesKonstantin Ridnõi, Kai Muru, Maria Keernik, et al.
Frontiers in Genetics|January 10, 2022
The Birth Prevalence of Spinal Muscular Atrophy: A Population Specific Approach in EstoniaSiiri Sarv, Tiina Kahre, Eve Vaidla, et al.
BMJ Open|May 27, 2026
Pragmatic trial assessing polygenic risk driven statin therapy for cardiovascular disease prevention: study protocol for the EE-PRS trialAve Voit, Aet Elken, Margus Viigimaa, 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.
JIMD Reports|November 15, 2024
The phenotypic spectrum of <i>PTCD3</i> deficiencyBaiba Lace, Eissa Faqeih, Namik Kaya, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 21, 2019
Estimating prevalence for limb-girdle muscular dystrophy based on public sequencing databasesWei Liu, Sander Pajusalu, Nicole J Lake, et al.
Annals of Neurology|April 27, 2019
Novel mutations in MYBPC1 are associated with myogenic tremor and mild myopathyJanis Stavusis, Baiba Lace, Jochen Schäfer, et al.
Pageof 9