Detalhe da pesquisa
1.
Detecting regions of homozygosity improves the diagnosis of pathogenic variants and uniparental disomy in pediatric patients.
Am J Med Genet A
; 188(6): 1728-1738, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35199448
2.
Clinical utility of genomic analysis in adults with idiopathic liver disease.
J Hepatol
; 70(6): 1214-1221, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-31000363
3.
The rs626283 Variant in the MBOAT7 Gene is Associated with Insulin Resistance and Fatty Liver in Caucasian Obese Youth.
Am J Gastroenterol
; 113(3): 376-383, 2018 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29485130
4.
TREX1 Mutation Causing Autosomal Dominant Thrombotic Microangiopathy and CKD-A Novel Presentation.
Am J Kidney Dis
; 72(6): 895-899, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-29941221
5.
Variant in the glucokinase regulatory protein (GCKR) gene is associated with fatty liver in obese children and adolescents.
Hepatology
; 55(3): 781-9, 2012 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-22105854
6.
Advancing diagnosis and management of liver disease in adults through exome sequencing.
EBioMedicine
; 95: 104747, 2023 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-37566928
7.
A common variant in the patatin-like phospholipase 3 gene (PNPLA3) is associated with fatty liver disease in obese children and adolescents.
Hepatology
; 52(4): 1281-90, 2010 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-20803499
8.
Application of Whole Exome Sequencing in the Clinical Diagnosis and Management of Inherited Cardiovascular Diseases in Adults.
Circ Cardiovasc Genet
; 10(1)2017 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-28087566
9.
Whole-exome sequencing in evaluation of patients with venous thromboembolism.
Blood Adv
; 1(16): 1224-1237, 2017 Jul 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-29296762
10.
Routine Genetic Testing for Thoracic Aortic Aneurysm and Dissection in a Clinical Setting.
Ann Thorac Surg
; 100(5): 1604-11, 2015 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-26188975
11.
A multiplex assay for the detection and mapping of complex glycerol kinase deficiency.
Clin Chem
; 52(10): 1864-70, 2006 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-16887896
12.
Clinical testing for the nevoid basal cell carcinoma syndrome in a DNA diagnostic laboratory.
Genet Med
; 7(9): 611-9, 2005.
Artigo
em Inglês
| MEDLINE | ID: mdl-16301862