Celia
Medrano Rodriguez
Consejo Superior de Investigaciones Científicas
Madrid, EspañaPublicaciones en colaboración con investigadores/as de Consejo Superior de Investigaciones Científicas (3)
2017
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A Population-Based Study on Congenital Disorders of Protein N- and Combined with O-Glycosylation Experience in Clinical and Genetic Diagnosis
Journal of Pediatrics, Vol. 183, pp. 170-177.e1
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