Detalhe da pesquisa
1.
Heterozygous HTRA1 nonsense or frameshift mutations are pathogenic.
Brain
; 144(9): 2616-2624, 2021 10 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-34270682
2.
Fetal megacystis-microcolon: Genetic mutational spectrum and identification of PDCL3 as a novel candidate gene.
Clin Genet
; 98(3): 261-273, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32621347
3.
Analysis of HOXB1 gene in a cohort of patients with sporadic ventricular septal defect.
Mol Biol Rep
; 45(5): 1507-1513, 2018 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-29923154
4.
Congenital Central Hypothyroidism Caused by a Novel IGSF1 Variant Identified in a French Family.
Horm Res Paediatr
; 95(3): 296-303, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35350016
5.
Novel Exon-Skipping Therapeutic Approach for the DMD Gene Based on Asymptomatic Deletions of Exon 49.
Genes (Basel)
; 13(7)2022 07 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-35886062
6.
SATB2-associated syndrome: first report of a gonadal and somatic mosaicism for an intragenic copy number variation.
Clin Dysmorphol
; 28(4): 205-210, 2019 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-31425298
7.
Outcomes of 4 years of molecular genetic diagnosis on a panel of genes involved in premature aging syndromes, including laminopathies and related disorders.
Orphanet J Rare Dis
; 14(1): 288, 2019 12 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31829210