Detalhe da pesquisa
1.
A dominant autoinflammatory disease caused by non-cleavable variants of RIPK1.
Nature
; 577(7788): 109-114, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31827280
2.
SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females.
Am J Hum Genet
; 108(3): 502-516, 2021 03 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33596411
3.
TSPEAR variants are primarily associated with ectodermal dysplasia and tooth agenesis but not hearing loss: A novel cohort study.
Am J Med Genet A
; 185(8): 2417-2433, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34042254
4.
MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis.
Brain
; 143(1): 55-68, 2020 01 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31834374
5.
Mutations in FAM50A suggest that Armfield XLID syndrome is a spliceosomopathy.
Nat Commun
; 11(1): 3698, 2020 07 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-32703943