Medical genomics: The intricate path from genetic variant identification to clinical interpretation
2014 · Applied & Translational Genomics · 37 citations
https://doi.org/10.1016/j.atg.2014.06.001
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Beatriz Quintáns
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Beatriz Quintáns is an academic researcher from Centre for Biomedical Network Research on Rare Diseases. The author has contributed to research in topics: Genetic Neurodegenerative Diseases & Hereditary Neurological Disorders & Mitochondrial Function and Pathology. The author has an h-index of 22, co-authored 46 publications.
Papers by this author
worksCorticospinal tract and motor cortex degeneration in pure hereditary spastic paraparesis type 4 (SPG4)
2021 · Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration · 12 citations
https://doi.org/10.1080/21678421.2021.1962353
Autosomal recessive spinocerebellar ataxia SCAR8/ARCA1: first families detected in Spain
2021 · Neurología (English Edition) · 4 citations
https://doi.org/10.1016/j.nrleng.2019.01.014
Geographic maps of haplogroup frequencies for haplogroups H*, H1, H2a, H3, H4, H5a, H6a, H7, H8, H11.
2015 · Figshare · 0 citations
https://doi.org/10.1371/journal.pone.0005112.g003
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