Publication Early diagnosis of adenylosuccinate lyase deficiency using a high-throughput screening method and a trial of oral S-adenosyl-l-methionine as a treatment method.
Publication Visual Processing in Adolescents Born Extremely Low Birth Weight and/or Extremely Preterm.
Publication Association of maternal and nutrient supply line factors with DNA methylation at the imprinted IGF2/H19 locus in multiple tissues of newborn twins.
Publication 5q31.3 Microdeletion syndrome: Clinical and molecular characterization of two further cases.
Publication TLR4, IL10RA, and NOD2 mutation in paediatric Crohn's disease patients: an association with Mycobacterium avium subspecies paratuberculosis and TLR4 and IL10RA expression.
Publication Cauli: a mouse strain with an ift140 mutation that results in a skeletal ciliopathy modelling jeune syndrome.
Publication Vitamin A supplementation and BCG vaccination at birth may affect atopy in childhood: long-term follow-up of a randomized controlled trial.