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

Elena Dadali

Showing results (11-20 of 38) with videos related to

Pageof 4
Sort By:
Molecular Genetics & Genomic Medicine|March 27, 2026
PDXK-Related Neuropathy: A Case With a Novel Splice-Altering Missense Variant and Literature ReviewDmitrii Subbotin, Daria Akimova, Elena Dadali, et al.
Frontiers in Genetics|June 21, 2024
Genetic Landscape of <i>SH3TC2</i> variants in Russian patients with Charcot-Marie-Tooth diseaseOlga Shchagina, Aysylu Murtazina, Polina Chausova, et al.
Genes|January 21, 2022
Clinical and Genetic Characteristics of COL2A1-Associated Skeletal Dysplasias in 60 Russian Patients: Part ITatyana Markova, Vladimir Kenis, Evgeniy Melchenko, et al.
Frontiers in Neurology|November 25, 2022
Case report: Unusual episodic myopathy in a patient with novel homozygous deletion of first coding exon of <i>MICU1</i> geneMargarita Sharova, Mikhail Skoblov, Elena Dadali, et al.
Frontiers in Pediatrics|December 9, 2024
Case Report: Exploring the clinical spectrum of LGMD R27: insights from a case study with homozygous pathogenic variant in the <i>JAG2</i> geneSergey Nikitin, Evgeniya Melnik, Inna Sharkova, et al.
Clinical Genetics|April 28, 2025
Expanding the Clinical Spectrum of BCARD Syndrome Caused by Novel Biallelic Variants in the PLOD3 GeneEvgeniya Melnik, Tatiana Markova, Yana Fedotova, et al.
Frontiers in Genetics|November 17, 2025
Biallelic variants in the <i>UTRN</i> gene cause a novel form of multiple congenital arthrogryposisEvgeniya Melnik, Daria Akimova, Tatiana Markova, et al.
Genes|September 28, 2023
Four Novel Disease-Causing Variants in the <i>NOTCH3</i> Gene in Russian Patients with CADASILFatima Bostanova, Polina Tsygankova, Ilya Nagornov, et al.
International Journal of Molecular Sciences|January 11, 2024
Expanding the Phenotype of Hereditary Congenital Facial Paresis Type 3Aysylu Murtazina, Artem Borovikov, Anna Kuchina, et al.
Genes|September 23, 2022
Clinical and Genetic Characteristics of Multiple Epiphyseal Dysplasia Type 4Tatiana Markova, Vladimir Kenis, Evgenii Melchenko, et al.
Pageof 4

Showing results (11-20 of 38) with videos related to

Sort By:
Pageof 4
Molecular Genetics & Genomic Medicine|March 27, 2026
PDXK-Related Neuropathy: A Case With a Novel Splice-Altering Missense Variant and Literature ReviewDmitrii Subbotin, Daria Akimova, Elena Dadali, et al.
Frontiers in Genetics|June 21, 2024
Genetic Landscape of <i>SH3TC2</i> variants in Russian patients with Charcot-Marie-Tooth diseaseOlga Shchagina, Aysylu Murtazina, Polina Chausova, et al.
Genes|January 21, 2022
Clinical and Genetic Characteristics of COL2A1-Associated Skeletal Dysplasias in 60 Russian Patients: Part ITatyana Markova, Vladimir Kenis, Evgeniy Melchenko, et al.
Frontiers in Neurology|November 25, 2022
Case report: Unusual episodic myopathy in a patient with novel homozygous deletion of first coding exon of <i>MICU1</i> geneMargarita Sharova, Mikhail Skoblov, Elena Dadali, et al.
Frontiers in Pediatrics|December 9, 2024
Case Report: Exploring the clinical spectrum of LGMD R27: insights from a case study with homozygous pathogenic variant in the <i>JAG2</i> geneSergey Nikitin, Evgeniya Melnik, Inna Sharkova, et al.
Clinical Genetics|April 28, 2025
Expanding the Clinical Spectrum of BCARD Syndrome Caused by Novel Biallelic Variants in the PLOD3 GeneEvgeniya Melnik, Tatiana Markova, Yana Fedotova, et al.
Frontiers in Genetics|November 17, 2025
Biallelic variants in the <i>UTRN</i> gene cause a novel form of multiple congenital arthrogryposisEvgeniya Melnik, Daria Akimova, Tatiana Markova, et al.
Genes|September 28, 2023
Four Novel Disease-Causing Variants in the <i>NOTCH3</i> Gene in Russian Patients with CADASILFatima Bostanova, Polina Tsygankova, Ilya Nagornov, et al.
International Journal of Molecular Sciences|January 11, 2024
Expanding the Phenotype of Hereditary Congenital Facial Paresis Type 3Aysylu Murtazina, Artem Borovikov, Anna Kuchina, et al.
Genes|September 23, 2022
Clinical and Genetic Characteristics of Multiple Epiphyseal Dysplasia Type 4Tatiana Markova, Vladimir Kenis, Evgenii Melchenko, et al.
Pageof 4