Detalhe da pesquisa
1.
Correction: Rondinone et al. Extensive Placental Methylation Profiling in Normal Pregnancies. Int. J. Mol. Sci. 2021, 22, 2136.
Int J Mol Sci
; 23(10)2022 May 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35628670
2.
Extensive Placental Methylation Profiling in Normal Pregnancies.
Int J Mol Sci
; 22(4)2021 Feb 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-33669975
3.
Characterization of a New Variant in ARHGAP31 Probably Involved in Adams-Oliver Syndrome in a Family with a Variable Phenotypic Spectrum.
Genes (Basel)
; 15(5)2024 Apr 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-38790165
4.
Pitfalls of whole exome sequencing in undefined clinical conditions with a suspected genetic etiology.
Genes Genomics
; 45(5): 637-655, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36454368
5.
Novel Pathogenetic Variants in PTHLH and TRPS1 Genes Causing Syndromic Brachydactyly.
J Bone Miner Res
; 37(3): 465-474, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34897794
6.
A novel de novo DDX3X missense variant in a female with brachycephaly and intellectual disability: a case report.
Ital J Pediatr
; 47(1): 81, 2021 Mar 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-33789733
7.
(Epi)genetic profiling of extraembryonic and postnatal tissues from female monozygotic twins discordant for Beckwith-Wiedemann syndrome.
Mol Genet Genomic Med
; 8(9): e1386, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32627967