Detalhe da pesquisa
1.
Author Correction: Maternal vitamin C regulates reprogramming of DNA methylation and germline development.
Nature
; 576(7785): E1, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31719689
2.
Maternal vitamin C regulates reprogramming of DNA methylation and germline development.
Nature
; 573(7773): 271-275, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31485074
3.
Germline GATA1s-generating mutations predispose to leukemia with acquired trisomy 21 and Down syndrome-like phenotype.
Blood
; 139(21): 3159-3165, 2022 05 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-34758059
4.
Recessive variants in COL25A1 gene as novel cause of arthrogryposis multiplex congenita with ocular congenital cranial dysinnervation disorder.
Hum Mutat
; 43(4): 487-498, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35077597
5.
Familial thrombocytopenia due to a complex structural variant resulting in a WAC-ANKRD26 fusion transcript.
J Exp Med
; 218(6)2021 06 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33857290
6.
Expanding the phenotypic spectrum in RDH12-associated retinal disease.
Cold Spring Harb Mol Case Stud
; 6(1)2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-32014858