Detalhe da pesquisa
1.
High diagnostic potential of short and long read genome sequencing with transcriptome analysis in exome-negative developmental disorders.
Hum Genet
; 142(6): 773-783, 2023 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-37076692
2.
Confirmation and further delineation of the SMG9-deficiency syndrome, a rare and severe developmental disorder.
Am J Med Genet A
; 179(11): 2257-2262, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31390136