Publicacións nas que colabora con María Jesús Sobrido Gómez (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
2015
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Targeted NGS meets expert clinical characterization: Efficient diagnosis of spastic paraplegia type 11
Applied and Translational Genomics, Vol. 5, pp. 33-36
2011
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Call for participation in the neurogenetics consortium within the Human Variome Project
Neurogenetics, Vol. 12, Núm. 3, pp. 169-173