Germline activating AKT3 mutation associated with megalencephaly, polymicrogyria, epilepsy and hypoglycemiaMark Nellist, Grazia M.S. Mancini, Maarten H. Lequin et al.|Molecular Genetics and Metabolism|2014Cited by 49
Novel no‐stop <i>FLNA</i> mutation causes multi‐organ involvement in malesRenske Oegema, Alice S. Brooks, Sabine D M Theuns-Valks et al.|American Journal of Medical Genetics Part A|2013Cited by 40