Overwhelming genetic heterogeneity and exhausting molecular diagnostic process in chronic and progressive ataxias: facing it up with an algorithm, a gene, a panel at a time
Perez Maturo, J, Zavala, L, Vega, P, González-Morón, D, Medina, N, Salinas, V, Rosales, J, Córdoba, M, Arakaki, T, Garretto, N, Rodríguez-Quiroga, S, Kauffman, M A
Published in Journal of human genetics (01.10.2020)
Published in Journal of human genetics (01.10.2020)
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Expanding the spectrum of Grik2 mutations: intellectual disability, behavioural disorder, epilepsy and dystonia
Córdoba, M., Rodriguez, S., González Morón, D., Medina, N., Kauffman, M.A.
Published in Clinical genetics (01.03.2015)
Published in Clinical genetics (01.03.2015)
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