Publication A pilot study of the effect of (e, e)-2, 4-undecadienal on the offensive odour of trimethylamine.
Publication The CDKL5 disorder is an independent clinical entity associated with early-onset encephalopathy.
Publication 14q12 microdeletions excluding FOXG1 give rise to a congenital variant Rett syndrome-like phenotype.
Publication Severe subacute necrotizing encephalopathy (Leigh-like syndrome) in American Staffordshire bull terrier dogs.
Publication In vitro read-through of phenylalanine hydroxylase (PAH) nonsense mutations using aminoglycosides: a potential therapy for phenylketonuria.
Publication Mutations in LYRM4, encoding iron-sulfur cluster biogenesis factor ISD11, cause deficiency of multiple respiratory chain complexes.
