Detalhe da pesquisa
1.
Characterization of Recessive Parkinson Disease in a Large Multicenter Study.
Ann Neurol
; 88(4): 843-850, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-33045815
2.
VPS4A mutation in syndromic congenital hemolytic anemia without obvious signs of dyserythropoiesis.
Am J Hematol
; 96(4): E121-E123, 2021 04 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33460484
3.
Multiple thrombosis in a patient with Gardos channelopathy and a new KCNN4 mutation.
Am J Hematol
; 96(9): E318-E321, 2021 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34004026
4.
Comparison of cardiac involvement, extracardiac manifestations and outcomes between homozygote and heterozygote transthyretin p.Val142Ile (V122I) variant in patients with hereditary transthyretin amyloidosis: a cohort study.
Amyloid
; 30(4): 407-415, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-37377439