Detalhe da pesquisa
1.
Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype-phenotype study in neurofibromatosis type 1.
Hum Mutat
; 41(1): 299-315, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31595648
2.
Sinus pericranii in achondroplasia: a case report and review of the literature.
Clin Dysmorphol
; 26(4): 252-255, 2017 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-28872565