Detalhe da pesquisa
1.
Functional study of a rare L1CAM gene c.1759G>C variant prove its pathogenicity.
Cell Biochem Funct
; 42(4): e4034, 2024 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-38715189
2.
Microduplication of BTRC detected in a Chinese family with split hand/foot malformation type 3.
Clin Genet
; 102(5): 451-456, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-35908152