Xenética
Servicio
Samuel Ignacio
Pascual Pascual
Publicacións nas que colabora con Samuel Ignacio Pascual Pascual (3)
2017
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Evaluating the Calling Performance of a Rare Disease NGS Panel for Single Nucleotide and Copy Number Variants
Molecular Diagnosis and Therapy, Vol. 21, Núm. 3, pp. 303-313
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PLA2G6 mutations associated with a continuous clinical spectrum from neuroaxonal dystrophy to hereditary spastic paraplegia
Clinical Genetics, Vol. 92, Núm. 5, pp. 534-539
2012
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Revisiting genotype-phenotype overlap in neurogenetics: Triplet-repeat expansions mimicking spastic paraplegias
Human Mutation, Vol. 33, Núm. 9, pp. 1315-1323