Detalhe da pesquisa
1.
The penetrance of rare variants in cardiomyopathy-associated genes: A cross-sectional approach to estimating penetrance for secondary findings.
Am J Hum Genet
; 110(9): 1482-1495, 2023 09 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37652022
2.
Facing the Unknown: An Inductive Analysis of the Lived Experience of Medical Residents during the COVID-19 Pandemic.
Psychopathology
; : 1-13, 2024 Mar 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-38467115
3.
An assessment of the role of vinculin loss of function variants in inherited cardiomyopathy.
Hum Mutat
; 41(9): 1577-1587, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32516855
4.
Early somatic mosaicism is a rare cause of long-QT syndrome.
Proc Natl Acad Sci U S A
; 113(41): 11555-11560, 2016 10 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-27681629
5.
Points to consider in the practice of postmortem genetic testing: A statement of the American College of Medical Genetics and Genomics (ACMG).
Genet Med
; 25(5): 100017, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36799919
6.
Adaptation and validation of the ACMG/AMP variant classification framework for MYH7-associated inherited cardiomyopathies: recommendations by ClinGen's Inherited Cardiomyopathy Expert Panel.
Genet Med
; 20(3): 351-359, 2018 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29300372
7.
Association of Arrhythmia-Related Genetic Variants With Phenotypes Documented in Electronic Medical Records.
JAMA
; 315(1): 47-57, 2016 Jan 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-26746457
8.
Postmortem Genetic Testing Is an Increasingly Utilized Tool in Death Investigation.
Acad Forensic Pathol
; 12(4): 129-139, 2022 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-36545303
9.
Harmonizing the Collection of Clinical Data on Genetic Testing Requisition Forms to Enhance Variant Interpretation in Hypertrophic Cardiomyopathy (HCM): A Study from the ClinGen Cardiomyopathy Variant Curation Expert Panel.
J Mol Diagn
; 23(5): 589-598, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33631351
10.
Newborn screening for X-linked adrenoleukodystrophy (X-ALD): validation of a combined liquid chromatography-tandem mass spectrometric (LC-MS/MS) method.
Mol Genet Metab
; 97(3): 212-20, 2009 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-19423374
11.
The incidence of duplicate genetic testing.
Genet Med
; 10(2): 114-6, 2008 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-18281918
12.
High-Throughput Functional Evaluation of KCNQ1 Decrypts Variants of Unknown Significance.
Circ Genom Precis Med
; 11(11): e002345, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30571187
13.
Medical errors related to inappropriate genetic testing in liver transplant patients.
Genet Test
; 11(4): 451-3, 2007.
Artigo
em Inglês
| MEDLINE | ID: mdl-18294063
14.
A depiction of a dream.
Sleep Health
; 8(2): 137-138, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35256310
15.
Results of genetic testing in 855 consecutive unrelated patients referred for long QT syndrome in a clinical laboratory.
Genet Test Mol Biomarkers
; 17(7): 553-61, 2013 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-23631430
16.
Partial Duplication and Poly(A) Insertion in KCNQ1 Not Detected by Next-Generation Sequencing in Jervell and Lange-Nielsen Syndrome.
Circ Arrhythm Electrophysiol
; 9(6)2016 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-27286732
17.
Sexo sem tabu: relato de um caso de ação comunitária, com foco na promoção de saúde de adolescentes, em uma escola técnica na cidade de São Paulo / Sex without taboo: report of a community action focused on health promotion for teenagers in a technical high school in the city of São Paulo
Rev. med. (Säo Paulo)
; 92(2): 128-133, abr.-jun. 2013. ilus, tab
Artigo
em Português
| LILACS | ID: lil-730754