Detalhe da pesquisa
1.
Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients.
J Med Genet
; 60(7): 644-654, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-36446582
2.
PTEN hamartoma tumor syndrome: Clinical and genetic characterization in pediatric patients.
Childs Nerv Syst
; 2024 Feb 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-38407606