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Elena Dadali

Showing results (1-10 of 38) with videos related to

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Clinics and Practice|February 26, 2026
A New Case of <i>PITX1</i>-Related Mandibular-Pelvic-Patellar (MPP) SyndromeEvgeniya Melnik, Ekaterina Petrova, Tatiana Markova, et al.
Molecular Genetics & Genomic Medicine|February 11, 2021
Clinical and genetic characterization of autosomal recessive stickler syndrome caused by novel compound heterozygous mutations in the COL9A3 geneTatiana Markova, Peter Sparber, Artem Borovikov, et al.
Genes|October 23, 2021
A Two-Year Clinical Description of a Patient with a Rare Type of Low-GGT Cholestasis Caused by a Novel Variant of <i>USP53</i>Olga Shatokhina, Natalia Semenova, Nina Demina, et al.
Genes|February 25, 2022
The First Russian Patient with Native American MyopathyAysylu Murtazina, Nina Demina, Polina Chausova, et al.
Genes|October 27, 2020
Identification of a Novel <i>de Novo</i> Variant in the <i>SYT2</i> Gene Causing a Rare Type of Distal Hereditary Motor NeuropathyOlga Mironovich, Elena Dadali, Sergey Malmberg, et al.
International Journal of Molecular Sciences|June 28, 2023
Evaluation of Pathogenicity and Causativity of Variants in the <i>MPZ</i> and <i>SH3TC2</i> Genes in a Family Case of Hereditary Peripheral NeuropathyOlga Shchagina, Mariya Orlova, Aisylu Murtazina, et al.
Pediatric Nephrology (Berlin, Germany)|July 22, 2025
Unexpected SLC34A3 rickets in a case of suspected distal myopathyMargarita Sharova, Dmitrii Subbotin, Aysylu Murtazina, et al.
BMC Medical Genetics|October 23, 2020
Recessive myotonia congenita caused by a homozygous splice site variant in CLCN1 gene: a case reportPeter Sparber, Margarita Sharova, Alexandra Filatova, et al.
Genes|November 27, 2024
A New Case of Mitochondrial RNA Helicase SUPV3L1-Associated Neurodegenerative Disease: Ataxia, Spasticity, Optic Atrophy, and Skin Hypopigmentation (ASOASH)Polina Tsygankova, Denis Chistol, Tatiana Krylova, et al.
Genes|June 26, 2026
A Homozygous Missense <i>COL1A1</i> Variant (p.Glu684Lys) Associated with an Arthrochalasia-like Ehlers-Danlos Syndrome Phenotype: A Case ReportTatiana Markova, Evgeniya Melnik, Maksim Kurelev, et al.
Pageof 4

Showing results (1-10 of 38) with videos related to

Sort By:
Pageof 4
Clinics and Practice|February 26, 2026
A New Case of <i>PITX1</i>-Related Mandibular-Pelvic-Patellar (MPP) SyndromeEvgeniya Melnik, Ekaterina Petrova, Tatiana Markova, et al.
Molecular Genetics & Genomic Medicine|February 11, 2021
Clinical and genetic characterization of autosomal recessive stickler syndrome caused by novel compound heterozygous mutations in the COL9A3 geneTatiana Markova, Peter Sparber, Artem Borovikov, et al.
Genes|October 23, 2021
A Two-Year Clinical Description of a Patient with a Rare Type of Low-GGT Cholestasis Caused by a Novel Variant of <i>USP53</i>Olga Shatokhina, Natalia Semenova, Nina Demina, et al.
Genes|February 25, 2022
The First Russian Patient with Native American MyopathyAysylu Murtazina, Nina Demina, Polina Chausova, et al.
Genes|October 27, 2020
Identification of a Novel <i>de Novo</i> Variant in the <i>SYT2</i> Gene Causing a Rare Type of Distal Hereditary Motor NeuropathyOlga Mironovich, Elena Dadali, Sergey Malmberg, et al.
International Journal of Molecular Sciences|June 28, 2023
Evaluation of Pathogenicity and Causativity of Variants in the <i>MPZ</i> and <i>SH3TC2</i> Genes in a Family Case of Hereditary Peripheral NeuropathyOlga Shchagina, Mariya Orlova, Aisylu Murtazina, et al.
Pediatric Nephrology (Berlin, Germany)|July 22, 2025
Unexpected SLC34A3 rickets in a case of suspected distal myopathyMargarita Sharova, Dmitrii Subbotin, Aysylu Murtazina, et al.
BMC Medical Genetics|October 23, 2020
Recessive myotonia congenita caused by a homozygous splice site variant in CLCN1 gene: a case reportPeter Sparber, Margarita Sharova, Alexandra Filatova, et al.
Genes|November 27, 2024
A New Case of Mitochondrial RNA Helicase SUPV3L1-Associated Neurodegenerative Disease: Ataxia, Spasticity, Optic Atrophy, and Skin Hypopigmentation (ASOASH)Polina Tsygankova, Denis Chistol, Tatiana Krylova, et al.
Genes|June 26, 2026
A Homozygous Missense <i>COL1A1</i> Variant (p.Glu684Lys) Associated with an Arthrochalasia-like Ehlers-Danlos Syndrome Phenotype: A Case ReportTatiana Markova, Evgeniya Melnik, Maksim Kurelev, et al.
Pageof 4