Publicacións (15) Publicacións nas que participase algún/ha investigador/a

2015

  1. A rare cause of neonatal obstructive jaundice

    Gastroenterology

  2. A reference frequency database of 15 autosomal STRs in Chile

    Forensic Science International: Genetics

  3. Calprotectina fecal en el pólipo juvenil colorrectal

    Anales de Pediatria

  4. Corrigendum to "A glimpse into past, present, and future DNA sequencing" [Mol. Genet. Metab. 110 (2013) 3-24]

    Molecular Genetics and Metabolism

  5. 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

  6. Corrigendum to "Risk factors for developing mineral bone disease in phenylketonuric patients" [Mol. Genet. Metab. 108 (2013) 149-154]

    Molecular Genetics and Metabolism

  7. Corrigendum to "Tetrahydrobiopterin therapy vs phenylalanine-restricted diet: Impact on growth in PKU" [Mol. Genet. Metab. 109 (2013) 331-338]

    Molecular Genetics and Metabolism

  8. Erratum to: The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation (J Inherit Metab Dis, 10.1007/s10545-015-9839-3)

    Journal of Inherited Metabolic Disease

  9. Erratum to: The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype (J Inherit Metab Dis, 10.1007/s10545-015-9840-x)

    Journal of Inherited Metabolic Disease

  10. Hipertransaminasemia secundaria a macroaspartato aminotransferasa

    Medicina Clinica

  11. Micronutrient in hyperphenylalaninemia

    Data in Brief

  12. Milder course in Duchenne patients with nonsense mutations and no muscle dystrophin

    Neuromuscular Disorders

  13. Mitochondrial DNA as a Risk Factor for False Positives in Case-Control Association Studies

    Journal of Genetics and Genomics

  14. Pseudoxanthoma elasticum-like papillary dermal elastolysis

    Actas Dermo-Sifiliograficas

  15. What's weighing down heliox?

    The Lancet Respiratory Medicine