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Analytical Biochemistry|January 24, 2015
Multiplex ligation-dependent probe amplification for identification of correctly targeted murine embryonic stem cell clonesEwelina Elert-Dobkowska, J Christopher Hennings, Christian A Hübner, 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.
Cerebellum (London, England)|May 7, 2026
Identification of FGF14 GAA Expansions in Polish Patients with Undiagnosed Cerebellar Ataxia - A Preliminary StudyMarta Matlawska, Karolina Ziora-Jakutowicz, Marie-Josee Dicaire, et al.
Journal of Neural Transmission (Vienna, Austria : 1996)|June 25, 2024
Differential diagnosis of Huntington's disease- neurological aspects of NKX2-1-related disordersJulia Skwara, Maciej Nowicki, Lucia Sharif, et al.
Neurogenetics|February 20, 2019
Next-generation sequencing study reveals the broader variant spectrum of hereditary spastic paraplegia and related phenotypesEwelina Elert-Dobkowska, Iwona Stepniak, Wioletta Krysa, et al.
Journal of Electromyography and Kinesiology : Official Journal of the International Society of Electrophysiological Kinesiology|October 15, 2019
The needle EMG findings in myotonia congenitaMonika Nojszewska, Anna Lusakowska, Malgorzata Gawel, et al.
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