Browse by Author "Ordóñez‐Ugalde, Andrés"

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A novel ABCA12 pathologic variant identified in an Ecuadorian harlequin ichthyosis patient: A step forward in genotype‐phenotype correlations

2019- Montalván‐Suárez, Martha; Saraiva Esperón, Uxía; Rodríguez Pazos, Laura; Ordóñez‐Ugalde, Andrés; Moscoso, Fernanda; [et al.]
The Alu-rich genomic architecture of SPAST predisposes to diverse and functionally distinct disease-associated CNV alleles

2014- Boone, P. M.; Yuan, B.; Campbell, I. M.; Scull, J. C.; Withers, M. A.; [et al.]