Compound Heterozygote of Point Mutation and Chromosomal Microdeletion Involving OTUD6B Coinciding with ZMIZ1 Variant in Syndromic Intellectual Disability

por Phetthong, Tim, Khongkrapan, Arthaporn, Jinawath, Natini, Seo, Go-Hun, Wattanasirichaigoon, Duangrurdee
Publicado 2021

Case report: Severe nonketotic hyperglycinemia in a neonate without apparent seizures but concomitant cleft palate and cerebral sinovenous thrombosis

por Thewamit, Rapeepat, Khongkhatithum, Chaiyos, Thampratankul, Lunliya, Kamolvisit, Wuttichart, Khongkrapan, Arthaporn, Wattanasirichaigoon, Duangrurdee
Publicado 2023