Detalhe da pesquisa
1.
Clinical Exome Sequencing Enables Congenital Sialidosis Type II Diagnosis in Two Siblings Presenting with Unreported Clinical Features from a Rare Homozygous Sequence Variant p.(Tyr370Cys) in NEU1.
Mol Syndromol
; 12(4): 250-257, 2021 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-34421504
2.
Whole-exome sequencing in three children with sporadic Blau syndrome, one of them co-presenting with recurrent polyserositis.
Autoimmunity
; 53(6): 344-352, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32597225