Detalhe da pesquisa
1.
Expanding the genotype and phenotype spectrum of SYT1-associated neurodevelopmental disorder.
Genet Med
; 24(4): 880-893, 2022 04.
Artigo
Inglês
| MEDLINE | ID: mdl-35101335
2.
JARID2 haploinsufficiency is associated with a clinically distinct neurodevelopmental syndrome.
Genet Med
; 23(2): 374-383, 2021 02.
Artigo
Inglês
| MEDLINE | ID: mdl-33077894