Genetic
Service
Universidade dos Açores
Ponta Delgada, PortugalPublications in collaboration with researchers from Universidade dos Açores (3)
2015
2014
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Exome sequencing is a useful diagnostic tool for complicated forms of hereditary spastic paraplegia
Clinical Genetics, Vol. 85, Núm. 2, pp. 154-158
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