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European Journal of Neurology|February 12, 2021
False-negative tests in Huntington's disease: A new variant within primer hybridization siteJaroslaw Dulski, Anna Sulek, Magdalena Krygier, et al.International Journal of Molecular Sciences|May 11, 2024
SPAST Intragenic CNVs Lead to Hereditary Spastic Paraplegia via a Haploinsufficiency MechanismEwelina Elert-Dobkowska, Iwona Stepniak, Wiktoria Radziwonik-Fraczyk, et al.Journal of Applied Genetics|May 19, 2022
Application of a custom NGS gene panel revealed a high diagnostic utility for molecular testing of hereditary ataxiasWiktoria Radziwonik, Ewelina Elert-Dobkowska, Aleksandra Klimkowicz-Mrowiec, et al.Postepy Psychiatrii Neurologii|August 9, 2024
Co-occurrence of CAPN3 homozygous mutation and CCTG expansion in the CNBP gene in a patient with muscular dystrophyWiktoria Radziwonik-Frączyk, Ewelina Elert-Dobkowska, Jolanta Kubalska, et al.Neurologia I Neurochirurgia Polska|June 6, 2022
C9orf72 hexanucleotide repeat expansion found in suspected spinobulbar muscular atrophy (SBMA)Wiktoria Radziwonik, Ewelina Elert-Dobkowska, Filip Tomczuk, et al.Neurogenetics|May 17, 2024
Next generation sequencing panel as an effective approach to genetic testing in patients with a highly variable phenotype of neuromuscular disordersWiktoria Radziwonik-Fraczyk, Ewelina Elert-Dobkowska, Marek Karpinski, et al.The Application of Clinical Genetics|December 30, 2025
A Novel Exon Duplication in the SACS Gene in Charlevoix-Saguenay Ataxia and a Summary of Polish CasesJakub P Fichna, Ewelina Elert-Dobkowska, Wiktoria Radziwonik-Fraczyk, et al.Pageof 1