2-methylbutyryl-CoA dehydrogenase deficiency associated with autism and mental retardation: a case report

por Kanavin, Oivind J, Woldseth, Berit, Jellum, Egil, Tvedt, Bjorn, Andresen, Brage S, Stromme, Petter
Publicado 2007

Haploinsufficiency of two histone modifier genes on 6p22.3, ATXN1 and JARID2, is associated with intellectual disability

por Barøy, Tuva, Misceo, Doriana, Strømme, Petter, Stray-Pedersen, Asbjørg, Holmgren, Asbjørn, Rødningen, Olaug Kristin, Blomhoff, Anne, Helle, Johan Robert, Stormyr, Alice, Tvedt, Bjørn, Fannemel, Madeleine, Frengen, Eirik
Publicado 2013