Detalhe da pesquisa
1.
Expanding the phenotype of UPF3B-related disorder: Case reports and literature review.
Am J Med Genet A
; 194(6): e63534, 2024 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-38318947
2.
The crucial role of titin in fetal development: recurrent miscarriages and bone, heart and muscle anomalies characterise the severe end of titinopathies spectrum.
J Med Genet
; 60(9): 866-873, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-36977548
3.
Counseling and prenatal diagnosis in facioscapulohumeral muscular dystrophy: A retrospective study on a 13-year multidisciplinary approach.
Health Sci Rep
; 5(3): e614, 2022 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-35509380