Detalhe da pesquisa
1.
TRIM71 mutations cause a neurodevelopmental syndrome featuring ventriculomegaly and hydrocephalus.
Brain
; 2024 Jun 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-38833623
2.
Distinctive phenotypes in two children with novel germline RUNX1 mutations - one with myeloid malignancy and increased fetal hemoglobin.
Pediatr Hematol Oncol
; 38(1): 65-79, 2021 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-32990483
3.
A relatively common homozygous TRAPPC4 splicing variant is associated with an early-infantile neurodegenerative syndrome.
Eur J Hum Genet
; 29(2): 271-279, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-32901138