Publicaciones en las que colabora con Ana Fernández Marmiesse (6)
2015
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Corrigendum to "A glimpse into past, present, and future DNA sequencing" [Mol. Genet. Metab. 110 (2013) 3-24]
Molecular Genetics and Metabolism
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Corrigendum to "Clinical and metabolic findings in patients with methionine adenosyltransferase I/III deficiency detected by newborn screening" [Mol. Genet. Metab. 110 (2013) 218-221]
Molecular Genetics and Metabolism
2014
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Assessment of a targeted resequencing assay as a support tool in the diagnosis of lysosomal storage disorders
Orphanet Journal of Rare Diseases, Vol. 9, Núm. 1
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The early detection of Salla disease through second-tier tests in newborn screening: How to face incidental findings
European Journal of Medical Genetics, Vol. 57, Núm. 9, pp. 527-531
2013
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A glimpse into past, present, and future DNA sequencing
Molecular Genetics and Metabolism, Vol. 110, Núm. 1-2, pp. 3-24
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Clinical and metabolic findings in patients with methionine adenosyltransferase I/III deficiency detected by newborn screening
Molecular Genetics and Metabolism, Vol. 110, Núm. 3, pp. 218-221