Arpád Bóday

机构：Medical Genetics Center · ORCID：0000-0001-8737-511X

发表论文 22 篇 · 总被引 103 次 · h-index 6

代表论文

• Expanding the phenotype spectrum associated with pathogenic variants in the COL2A1 and COL11A1 genes (2020 · Annals of Human Genetics · 被引 21)
• Absence of spinocerebellar ataxia type 3/Machado–Joseph disease within ataxic patients in the Czech population (2005 · European Journal of Neurology · 被引 18)
• Newly designed 11-gene panel reveals first case of hereditary amyloidosis captured by massive parallel sequencing (2018 · Journal of Clinical Pathology · 被引 17)
• Fluorescent Multiplex PCR: Fast Method for Autosomal Dominant Spinocerebellar Ataxias Screening (2005 · Russian Journal of Genetics · 被引 15)
• Malignant Melanoma – from Classical Histology towards Molecular Genetic Testing (2017 · Klinicka onkologie · 被引 10)
• Genotype/phenotype correlation in a SCA1 family: anticipation without CAG expansion. (2005 · PubMed · 被引 7)