Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Filters

Lydia Sagath

Showing results (1-10 of 19) with videos related to

Pageof 2
Sort By:
Genes|May 28, 2022
Array Comparative Genomic Hybridisation and Droplet Digital PCR Uncover Recurrent Copy Number Variation of the <i>TTN</i> Segmental Duplication RegionLydia Sagath, Vilma-Lotta Lehtokari, Katarina Pelin, et al.
Plos One|May 16, 2022
A custom ddPCR method for the detection of copy number variations in the nebulin triplicate regionLydia Sagath, Vilma-Lotta Lehtokari, Carina Wallgren-Pettersson, et al.
The Journal of Molecular Diagnostics : JMD|November 17, 2019
Improving Copy Number Variant Detection from Sequencing Data with a Combination of Programs and a Predictive ModelSalla Välipakka, Marco Savarese, Lydia Sagath, et al.
Muscle & Nerve|September 29, 2018
A nebulin super-repeat panel reveals stronger actin binding toward the ends of the super-repeat regionJenni Laitila, Johanna Lehtonen, Vilma-Lotta Lehtokari, et al.
Journal of Neuromuscular Diseases|July 25, 2018
An Extended Targeted Copy Number Variation Detection Array Including 187 Genes for the Diagnostics of Neuromuscular DisordersLydia Sagath, Vilma-Lotta Lehtokari, Salla Välipakka, et al.
European Journal of Neurology|January 6, 2025
Myotilin gene duplication causing late-onset myotilinopathyMarco Spinazzi, Marco Savarese, Franck Letournel, et al.
Journal of Neuromuscular Diseases|July 2, 2023
Novel Compound Heterozygous Splice-Site Variants in TPM3 Revealed by RNA Sequencing in a Patient with an Unusual Form of Nemaline Myopathy: A Case ReportKatarina Pelin, Lydia Sagath, Johanna Lehtonen, et al.
Neuromuscular Disorders : NMD|May 2, 2021
Congenital asymmetric distal myopathy with hemifacial weakness caused by a heterozygous large de novo mosaic deletion in nebulinLydia Sagath, Vilma-Lotta Lehtokari, Salla Välipakka, et al.
Neurology. Genetics|September 22, 2018
Copy number variation analysis increases the diagnostic yield in muscle diseasesSalla Välipakka, Marco Savarese, Mridul Johari, et al.
Journal of Neuromuscular Diseases|May 21, 2025
A homozygous single-nucleotide variant in <i>TNNT1</i> causes abnormal troponin T isoform expression in a patient with severe nemaline myopathy: A case reportMilla Laarne, Ali Oghabian, Jenni Laitila, et al.
Pageof 2

Showing results (1-10 of 19) with videos related to

Sort By:
Pageof 2
Genes|May 28, 2022
Array Comparative Genomic Hybridisation and Droplet Digital PCR Uncover Recurrent Copy Number Variation of the <i>TTN</i> Segmental Duplication RegionLydia Sagath, Vilma-Lotta Lehtokari, Katarina Pelin, et al.
Plos One|May 16, 2022
A custom ddPCR method for the detection of copy number variations in the nebulin triplicate regionLydia Sagath, Vilma-Lotta Lehtokari, Carina Wallgren-Pettersson, et al.
The Journal of Molecular Diagnostics : JMD|November 17, 2019
Improving Copy Number Variant Detection from Sequencing Data with a Combination of Programs and a Predictive ModelSalla Välipakka, Marco Savarese, Lydia Sagath, et al.
Muscle & Nerve|September 29, 2018
A nebulin super-repeat panel reveals stronger actin binding toward the ends of the super-repeat regionJenni Laitila, Johanna Lehtonen, Vilma-Lotta Lehtokari, et al.
Journal of Neuromuscular Diseases|July 25, 2018
An Extended Targeted Copy Number Variation Detection Array Including 187 Genes for the Diagnostics of Neuromuscular DisordersLydia Sagath, Vilma-Lotta Lehtokari, Salla Välipakka, et al.
European Journal of Neurology|January 6, 2025
Myotilin gene duplication causing late-onset myotilinopathyMarco Spinazzi, Marco Savarese, Franck Letournel, et al.
Journal of Neuromuscular Diseases|July 2, 2023
Novel Compound Heterozygous Splice-Site Variants in TPM3 Revealed by RNA Sequencing in a Patient with an Unusual Form of Nemaline Myopathy: A Case ReportKatarina Pelin, Lydia Sagath, Johanna Lehtonen, et al.
Neuromuscular Disorders : NMD|May 2, 2021
Congenital asymmetric distal myopathy with hemifacial weakness caused by a heterozygous large de novo mosaic deletion in nebulinLydia Sagath, Vilma-Lotta Lehtokari, Salla Välipakka, et al.
Neurology. Genetics|September 22, 2018
Copy number variation analysis increases the diagnostic yield in muscle diseasesSalla Välipakka, Marco Savarese, Mridul Johari, et al.
Journal of Neuromuscular Diseases|May 21, 2025
A homozygous single-nucleotide variant in <i>TNNT1</i> causes abnormal troponin T isoform expression in a patient with severe nemaline myopathy: A case reportMilla Laarne, Ali Oghabian, Jenni Laitila, et al.
Pageof 2