Pathogenic variants in PIDD1 lead to an autosomal recessive neurodevelopmental disorder with pachygyria and psychiatric features

Journal: Eur J Hum Genet

Publication date: 2021

Journal: Eur J Hum Genet

Publication Year: 2021

Authors & Co-authors: 

An integrated multiomic approach as an excellent tool for the diagnosis of metabolic diseases: our first 3720 patients

Journal: Eur J Hum Genet

Publication date: 2022

Journal: Eur J Hum Genet

Publication Year: 2022

Authors & Co-authors: