Detalhe da pesquisa
1.
Haploinsufficiency of the Sin3/HDAC corepressor complex member SIN3B causes a syndromic intellectual disability/autism spectrum disorder.
Am J Hum Genet
; 108(5): 929-941, 2021 05 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33811806
2.
Extending the clinical phenotype of SPTAN1: From DEE5 to migraine, epilepsy, and subependymal heterotopias without intellectual disability.
Am J Med Genet A
; 188(1): 147-159, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34590414
3.
A novel missense mutation in the NSDHL gene identified in a Lithuanian family by targeted next-generation sequencing causes CK syndrome.
Am J Med Genet A
; 167(6): 1342-8, 2015 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-25900314