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Elena Dadali

Showing results (21-30 of 38) with videos related to

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Genes|August 26, 2023
Rare IFT140-Associated Phenotype of Cranioectodermal Dysplasia and Features of Diagnostic Journey in Patients with Suspected CiliopathiesMargarita Sharova, Tatyana Markova, Maria Sumina, et al.
Gene|June 14, 2024
Genetic spectrum of sarcoglycanopathies in a cohort of Russian patientsMaria Bulakh, Daria Polyakova, Elena Dadali, et al.
Frontiers in Pediatrics|February 2, 2024
Mild phenotype of <i>CHAT</i>-associated congenital myasthenic syndrome: case seriesAysylu Murtazina, Artem Borovikov, Andrey Marakhonov, et al.
International Journal of Molecular Sciences|July 29, 2025
Beyond the Known: Expanding the Clinical and Genetic Spectrum of Rare RPL13-Related Spondyloepimetaphyseal DysplasiaDaria Gorodilova, Elena Dadali, Vladimir Kenis, et al.
International Journal of Molecular Sciences|May 13, 2023
Clinical and Genetic Characteristics of Calvarial Doughnut Lesions with Bone Fragility in Three Families with a Reccurent <i>SGMS2</i> Gene VariantElena Merkuryeva, Tatiana Markova, Anton Tyurin, et al.
International Journal of Molecular Sciences|May 27, 2026
Rare SMA Patients: A Comprehensive Look at Clinical Features, Genetic Profiles and Therapeutic ApproachesKristina Mikhalchuk, Svetlana Artemieva, Viktoria Zabnenkova, et al.
International Journal of Molecular Sciences|July 27, 2022
Complex Diagnostics of Non-Specific Intellectual Developmental DisorderOlga Levchenko, Elena Dadali, Ludmila Bessonova, et al.
Genes|November 11, 2022
Genetic and Clinical Spectrum of GNE Myopathy in RussiaAysylu Murtazina, Sergey Nikitin, Galina Rudenskaya, et al.
Journal of Neuromuscular Diseases|June 25, 2026
Analysis of diagnostic pitfalls in 125 genetically confirmed cases of distal myopathiesDmitrii Subbotin, Artem Borovikov, Anna Kuchina, et al.
International Journal of Molecular Sciences|February 13, 2025
A Spectrum of Pathogenic Variants in the <i>LAMA2</i> Gene in the Russian FederationPolina Chausova, Tatiana Cherevatova, Elena Dadali, et al.
Pageof 4

Showing results (21-30 of 38) with videos related to

Sort By:
Pageof 4
Genes|August 26, 2023
Rare IFT140-Associated Phenotype of Cranioectodermal Dysplasia and Features of Diagnostic Journey in Patients with Suspected CiliopathiesMargarita Sharova, Tatyana Markova, Maria Sumina, et al.
Gene|June 14, 2024
Genetic spectrum of sarcoglycanopathies in a cohort of Russian patientsMaria Bulakh, Daria Polyakova, Elena Dadali, et al.
Frontiers in Pediatrics|February 2, 2024
Mild phenotype of <i>CHAT</i>-associated congenital myasthenic syndrome: case seriesAysylu Murtazina, Artem Borovikov, Andrey Marakhonov, et al.
International Journal of Molecular Sciences|July 29, 2025
Beyond the Known: Expanding the Clinical and Genetic Spectrum of Rare RPL13-Related Spondyloepimetaphyseal DysplasiaDaria Gorodilova, Elena Dadali, Vladimir Kenis, et al.
International Journal of Molecular Sciences|May 13, 2023
Clinical and Genetic Characteristics of Calvarial Doughnut Lesions with Bone Fragility in Three Families with a Reccurent <i>SGMS2</i> Gene VariantElena Merkuryeva, Tatiana Markova, Anton Tyurin, et al.
International Journal of Molecular Sciences|May 27, 2026
Rare SMA Patients: A Comprehensive Look at Clinical Features, Genetic Profiles and Therapeutic ApproachesKristina Mikhalchuk, Svetlana Artemieva, Viktoria Zabnenkova, et al.
International Journal of Molecular Sciences|July 27, 2022
Complex Diagnostics of Non-Specific Intellectual Developmental DisorderOlga Levchenko, Elena Dadali, Ludmila Bessonova, et al.
Genes|November 11, 2022
Genetic and Clinical Spectrum of GNE Myopathy in RussiaAysylu Murtazina, Sergey Nikitin, Galina Rudenskaya, et al.
Journal of Neuromuscular Diseases|June 25, 2026
Analysis of diagnostic pitfalls in 125 genetically confirmed cases of distal myopathiesDmitrii Subbotin, Artem Borovikov, Anna Kuchina, et al.
International Journal of Molecular Sciences|February 13, 2025
A Spectrum of Pathogenic Variants in the <i>LAMA2</i> Gene in the Russian FederationPolina Chausova, Tatiana Cherevatova, Elena Dadali, et al.
Pageof 4