Lourdes
Ruiz Desviat
Publicaciones en las que colabora con Lourdes Ruiz Desviat (4)
2017
2016
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Molecular diagnosis of glycogen storage disease and disorders with overlapping clinical symptoms by massive parallel sequencing
Genetics in Medicine, Vol. 18, Núm. 10, pp. 1037-1043
2015
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Antisense-mediated therapeutic pseudoexon skipping in TMEM165-CDG
Clinical Genetics, Vol. 87, Núm. 1, pp. 42-48
2011
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Genotype-phenotype correlations in sepiapterin reductase deficiency. A splicing defect accounts for a new phenotypic variant
Neurogenetics, Vol. 12, Núm. 3, pp. 183-191