Detalhe da pesquisa
1.
Evaluating the performance of a clinical genome sequencing program for diagnosis of rare genetic disease, seen through the lens of craniosynostosis.
Genet Med
; 23(12): 2360-2368, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34429528
2.
Adding evidence to the role of NEUROG1 in congenital cranial dysinnervation disorders.
Clin Genet
; 99(4): 588-593, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33439489
3.
The contribution of X-linked coding variation to severe developmental disorders.
Nat Commun
; 12(1): 627, 2021 01 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-33504798