Detalhe da pesquisa
1.
The hospital Israelita Albert Einstein standards for constitutional sequence variants classification: version 2023.
Hum Genomics
; 17(1): 102, 2023 Nov 16.
Artigo
Inglês
| MEDLINE | ID: mdl-37968704
2.
A rare case of hepatoblastoma in a syndromic child with a de novo germline JAG1 mutation.
Pediatr Blood Cancer
; 70(7): e30311, 2023 07.
Artigo
Inglês
| MEDLINE | ID: mdl-36965188
3.
Expanding the role of SETD5 haploinsufficiency in neurodevelopment and neuroblastoma.
Pediatr Blood Cancer
; 67(11): e28376, 2020 11.
Artigo
Inglês
| MEDLINE | ID: mdl-32748512
4.
LHX6 promoter hypermethylation in oncological pediatric patients conceived by IVF.
J Dev Orig Health Dis
; 14(1): 140-145, 2023 02.
Artigo
Inglês
| MEDLINE | ID: mdl-36154949
5.
Genomic study of nonsyndromic hearing loss in unaffected individuals: Frequency of pathogenic and likely pathogenic variants in a Brazilian cohort of 2,097 genomes.
Front Genet
; 13: 921324, 2022.
Artigo
Inglês
| MEDLINE | ID: mdl-36147510