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Sander Pajusalu

Showing results (41-50 of 81) with videos related to

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JCI Insight|October 3, 2023
Human skeletal myopathy myosin mutations disrupt myosin head sequestrationGlenn Carrington, Abbi Hau, Sarah Kosta, et al.
Human Mutation|June 22, 2022
CAPN3 c.1746-20C>G variant is hypomorphic for LGMD R1 calpain 3-relatedMagdalena Mroczek, Inna Inashkina, Janis Stavusis, et al.
Nature Communications|October 29, 2021
Congenital disorder of glycosylation caused by starting site-specific variant in syntaxin-5Peter T A Linders, Eveline C F Gerretsen, Angel Ashikov, et al.
European Journal of Human Genetics : EJHG|January 19, 2018
Compound heterozygous SPATA5 variants in four families and functional studies of SPATA5 deficiencySanna Puusepp, Reka Kovacs-Nagy, Bader Alhaddad, et al.
Cancers|April 14, 2025
Guidance for the Clinical Use of the Breast Cancer Polygenic Risk ScoresPeeter Padrik, Neeme Tõnisson, Tone Hovda, et al.
Neurology|April 1, 2016
Diffuse hypomyelination is not obligate for POLR3-related disordersRoberta La Piana, Ferdy K Cayami, Luan T Tran, et al.
The New England Journal of Medicine|September 27, 2023
Death after High-Dose rAAV9 Gene Therapy in a Patient with Duchenne's Muscular DystrophyAngela Lek, Brenda Wong, Allison Keeler, et al.
Clinical Breast Cancer|October 30, 2025
Clinical Implementation Study of Genetic Risk-Based Breast Cancer ScreeningMadli Tamm, Peeter Padrik, Kristiina Ojamaa, et al.
Human Mutation|July 29, 2022
De novo putative loss-of-function variants in TAF4 are associated with a neuro-developmental disorderBeau D E Janssen, Marie-Jose H van den Boogaard, Klaske Lichtenbelt, et al.
Annals of Clinical and Translational Neurology|February 4, 2024
Recurring homozygous ACTN2 variant (p.Arg506Gly) causes a recessive myopathySandra Donkervoort, Payam Mohassel, Melanie O'Leary, et al.
Pageof 9

Showing results (41-50 of 81) with videos related to

Sort By:
Pageof 9
JCI Insight|October 3, 2023
Human skeletal myopathy myosin mutations disrupt myosin head sequestrationGlenn Carrington, Abbi Hau, Sarah Kosta, et al.
Human Mutation|June 22, 2022
CAPN3 c.1746-20C>G variant is hypomorphic for LGMD R1 calpain 3-relatedMagdalena Mroczek, Inna Inashkina, Janis Stavusis, et al.
Nature Communications|October 29, 2021
Congenital disorder of glycosylation caused by starting site-specific variant in syntaxin-5Peter T A Linders, Eveline C F Gerretsen, Angel Ashikov, et al.
European Journal of Human Genetics : EJHG|January 19, 2018
Compound heterozygous SPATA5 variants in four families and functional studies of SPATA5 deficiencySanna Puusepp, Reka Kovacs-Nagy, Bader Alhaddad, et al.
Cancers|April 14, 2025
Guidance for the Clinical Use of the Breast Cancer Polygenic Risk ScoresPeeter Padrik, Neeme Tõnisson, Tone Hovda, et al.
Neurology|April 1, 2016
Diffuse hypomyelination is not obligate for POLR3-related disordersRoberta La Piana, Ferdy K Cayami, Luan T Tran, et al.
The New England Journal of Medicine|September 27, 2023
Death after High-Dose rAAV9 Gene Therapy in a Patient with Duchenne's Muscular DystrophyAngela Lek, Brenda Wong, Allison Keeler, et al.
Clinical Breast Cancer|October 30, 2025
Clinical Implementation Study of Genetic Risk-Based Breast Cancer ScreeningMadli Tamm, Peeter Padrik, Kristiina Ojamaa, et al.
Human Mutation|July 29, 2022
De novo putative loss-of-function variants in TAF4 are associated with a neuro-developmental disorderBeau D E Janssen, Marie-Jose H van den Boogaard, Klaske Lichtenbelt, et al.
Annals of Clinical and Translational Neurology|February 4, 2024
Recurring homozygous ACTN2 variant (p.Arg506Gly) causes a recessive myopathySandra Donkervoort, Payam Mohassel, Melanie O'Leary, et al.
Pageof 9