Detalhe da pesquisa
1.
Exome sequencing reveals predominantly de novo variants in disorders with intellectual disability (ID) in the founder population of Finland.
Hum Genet
; 140(7): 1011-1029, 2021 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-33710394
2.
Novel LAMC3 pathogenic variant enriched in Finnish population causes malformations of cortical development and severe epilepsy.
Epileptic Disord
; 2024 May 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-38758065