Detalhe da pesquisa
1.
Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients.
J Med Genet
; 60(7): 644-654, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-36446582
2.
OPA1 Dominant Optic Atrophy: Diagnostic Approach in the Pediatric Population.
Curr Issues Mol Biol
; 45(1): 465-478, 2023 Jan 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36661516
3.
Whole-Exome Sequencing of 24 Spanish Families: Candidate Genes for Non-Syndromic Pediatric Keratoconus.
Genes (Basel)
; 14(10)2023 09 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-37895187