Detalhe da pesquisa
1.
Disease-Causing TIMP3 Variants and Deep Phenotyping of Two Czech Families with Sorsby Fundus Dystrophy Associated with Novel p.(Tyr152Cys) Mutation.
Int J Mol Sci
; 25(7)2024 Mar 27.
Artigo
Inglês
| MEDLINE | ID: mdl-38612555
2.
MIR204 n.37C>T variant as a cause of chorioretinal dystrophy variably associated with iris coloboma, early-onset cataracts and congenital glaucoma.
Clin Genet
; 104(4): 418-426, 2023 10.
Artigo
Inglês
| MEDLINE | ID: mdl-37321975
3.
Towards Uncovering the Role of Incomplete Penetrance in Maculopathies through Sequencing of 105 Disease-Associated Genes.
Biomolecules
; 14(3)2024 Mar 19.
Artigo
Inglês
| MEDLINE | ID: mdl-38540785