Publication Partially methylated alleles, microdeletion, and tissue mosaicism in a fragile X male with tremor and ataxia at 30 years of age: A case report.
Publication Patient care standards for primary mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society.
Publication Pneumococcal nasopharyngeal carriage following reduced doses of a 7-valent pneumococcal conjugate vaccine and a 23-valent pneumococcal polysaccharide vaccine booster.
Publication Prospective analysis of the association between estrogen receptor gene variants and the risk of cognitive decline in elderly women
Publication Randomized controlled trial to compare sleep and wake in preterm infants less than 32 weeks of gestation receiving two different modes of non-invasive respiratory support.
Publication RASA1 Mutations and Associated Phenotypes in 68 Families with Capillary Malformation-Arteriovenous Malformation