Detalhe da pesquisa
1.
Physician-directed genetic screening to evaluate personal risk for medically actionable disorders: a large multi-center cohort study.
BMC Med
; 19(1): 199, 2021 08 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-34404389
2.
Correction to: Physician-directed genetic screening to evaluate personal risk for medically actionable disorders: a large multi-center cohort study.
BMC Med
; 19(1): 288, 2021 Nov 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34732190
3.
Loss of function mutation in glutamic pyruvate transaminase 2 (GPT2) causes developmental encephalopathy.
J Inherit Metab Dis
; 38(5): 941-8, 2015 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-25758935
4.
Retrospective Cohort Study on the Limitations of Direct-to-Consumer Genetic Screening in Hereditary Breast and Ovarian Cancer.
JCO Precis Oncol
; 7: e2200695, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37535880
5.
The Impact of Proband Indication for Genetic Testing on the Uptake of Cascade Testing Among Relatives.
Front Genet
; 13: 867226, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35783293
6.
Limited-Variant Screening vs Comprehensive Genetic Testing for Familial Hypercholesterolemia Diagnosis.
JAMA Cardiol
; 6(8): 902-909, 2021 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34037665
7.
SMC1A expression and mechanism of pathogenicity in probands with X-Linked Cornelia de Lange syndrome.
Hum Mutat
; 30(11): 1535-42, 2009 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-19701948
8.
Intragenic deletions and duplications of the LIS1 and DCX genes: a major disease-causing mechanism in lissencephaly and subcortical band heterotopia.
Eur J Hum Genet
; 17(7): 911-8, 2009 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-19050731
9.
Comparison of performance of three commercial platforms for warfarin sensitivity genotyping.
Clin Chim Acta
; 406(1-2): 143-7, 2009 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-19545555
10.
UGT1A1 variation and gallstone formation in sickle cell disease.
Blood
; 105(3): 968-72, 2005 Feb 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-15388579