Detalhe da pesquisa
1.
SCUBE3 loss-of-function causes a recognizable recessive developmental disorder due to defective bone morphogenetic protein signaling.
Am J Hum Genet
; 108(1): 115-133, 2021 01 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33308444
2.
Schwartz Jampel syndrome responding positively to carbamazepine therapy: a case report and a novel mutation.
Turk J Pediatr
; 61(6): 967-970, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-32134596