Detalhe da pesquisa
1.
Novel biallelic variants expand the phenotype of NAA20-related syndrome.
Clin Genet
; 104(3): 371-376, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37191084
2.
Characterization of a possible founder synonymous variant in TECTA in multiple individuals with autosomal recessive hearing loss.
Hum Mutat
; 43(12): 1837-1843, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-35870179
3.
Emerging variants, unique phenotypes, and transcriptomic signatures: an integrated study of COASY-associated diseases.
Ann Clin Transl Neurol
; 11(6): 1615-1629, 2024 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-38750253
4.
Modification to facilitate the wearing of spectacles by patient after reconstruction with a paramedian forehead pedicled flap.
Br J Oral Maxillofac Surg
; 54(9): 1036-1037, 2016 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-26830067