Detalhe da pesquisa
1.
Somatic Mutations in UBA1 and Severe Adult-Onset Autoinflammatory Disease.
N Engl J Med
; 383(27): 2628-2638, 2020 12 31.
Artigo
Inglês
| MEDLINE | ID: mdl-33108101
2.
De Novo Missense Variants in TRAF7 Cause Developmental Delay, Congenital Anomalies, and Dysmorphic Features.
Am J Hum Genet
; 103(1): 154-162, 2018 07 05.
Artigo
Inglês
| MEDLINE | ID: mdl-29961569
3.
ALPK1 missense pathogenic variant in five families leads to ROSAH syndrome, an ocular multisystem autosomal dominant disorder.
Genet Med
; 21(9): 2103-2115, 2019 09.
Artigo
Inglês
| MEDLINE | ID: mdl-30967659
4.
Case report: extreme coronary calcifications and hypomagnesemia in a patient with a 17q12 deletion involving HNF1B.
BMC Nephrol
; 20(1): 353, 2019 09 09.
Artigo
Inglês
| MEDLINE | ID: mdl-31500578
5.
Calciphylaxis in POEMS syndrome: Case report.
Rare
; 22024.
Artigo
Inglês
| MEDLINE | ID: mdl-38435320
6.
Pathological variants in TOP3A cause distinct disorders of mitochondrial and nuclear genome stability.
EMBO Mol Med
; 15(5): e16775, 2023 05 08.
Artigo
Inglês
| MEDLINE | ID: mdl-37013609
7.
SGLT2 Inhibitors for Treatment of Refractory Hypomagnesemia: A Case Report of 3 Patients.
Kidney Med
; 2(3): 359-364, 2020.
Artigo
Inglês
| MEDLINE | ID: mdl-32734255
8.
Comparative effects of three popular diets on lipids, endothelial function, and C-reactive protein during weight maintenance.
J Am Diet Assoc
; 109(4): 713-7, 2009 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-19328268