Detalhe da pesquisa
1.
A severe neurocognitive phenotype caused by biallelic CHD3 variants in two siblings.
Am J Med Genet A
; 194(4): e63503, 2024 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-38116750
2.
Large scale population screening for Duchenne muscular dystrophy-Predictable and unpredictable challenges.
Prenat Diagn
; 42(9): 1162-1172, 2022 08.
Artigo
Inglês
| MEDLINE | ID: mdl-35751502