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Peripartum Cardiomyopathy: JACC State-of-the-Art Review
Peripartum cardiomyopathy is a form of systolic heart failure affecting young women toward
the end of pregnancy or in the months following delivery. Incidence is higher in African …
the end of pregnancy or in the months following delivery. Incidence is higher in African …
Management of atrial fibrillation across the spectrum of heart failure with preserved and reduced ejection fraction
Atrial fibrillation (AF) is the most common arrhythmia among patients with heart failure (HF),
and HF is the most common cause of death for patients presenting with clinical AF. AF is …
and HF is the most common cause of death for patients presenting with clinical AF. AF is …
ACMG SF v3. 0 list for reporting of secondary findings in clinical exome and genome sequencing: a policy statement of the American College of Medical Genetics and …
Clinicians are encouraged to document the reasons for the use of a particular procedure or
test, whether or not it is in conformance with this statement. Clinicians also are advised to …
test, whether or not it is in conformance with this statement. Clinicians also are advised to …
Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2021 update: a policy statement of the American College of Medical …
Disclaimer: This statement is designed primarily as an educational resource for medical
geneticists and other clinicians to help them provide quality medical services. Adherence to …
geneticists and other clinicians to help them provide quality medical services. Adherence to …
Analysis of rare genetic variation underlying cardiometabolic diseases and traits among 200,000 individuals in the UK Biobank
Cardiometabolic diseases are the leading cause of death worldwide. Despite a known
genetic component, our understanding of these diseases remains incomplete. Here, we …
genetic component, our understanding of these diseases remains incomplete. Here, we …
Analysis of cardiac magnetic resonance imaging in 36,000 individuals yields genetic insights into dilated cardiomyopathy
Dilated cardiomyopathy (DCM) is an important cause of heart failure and the leading
indication for heart transplantation. Many rare genetic variants have been associated with …
indication for heart transplantation. Many rare genetic variants have been associated with …
Genetic and phenotypic landscape of peripartum cardiomyopathy
R Goli, J Li, J Brandimarto, LD Levine, V Riis… - Circulation, 2021 - ahajournals.org
Background: Peripartum cardiomyopathy (PPCM) occurs in≈ 1: 2000 deliveries in the
United States and worldwide. The genetic underpinnings of PPCM remain poorly defined …
United States and worldwide. The genetic underpinnings of PPCM remain poorly defined …
Truncated titin proteins and titin haploinsufficiency are targets for functional recovery in human cardiomyopathy due to TTN mutations
Heterozygous truncating variants in TTN (TTNtv), the gene coding for titin, cause dilated
cardiomyopathy (DCM), but the underlying pathomechanisms are unclear and disease …
cardiomyopathy (DCM), but the underlying pathomechanisms are unclear and disease …
Dilated cardiomyopathy in the era of precision medicine: latest concepts and developments
Dilated cardiomyopathy (DCM) is an umbrella term entailing a wide variety of genetic and
non-genetic etiologies, leading to left ventricular systolic dysfunction and dilatation, not …
non-genetic etiologies, leading to left ventricular systolic dysfunction and dilatation, not …
Clinical Phenotypes and Prognosis of Dilated Cardiomyopathy Caused by Truncating Variants in the TTN Gene
MM Akhtar, M Lorenzini, M Cicerchia… - Circulation: Heart …, 2020 - ahajournals.org
Background: Truncating variants in the TTN gene (TTNtv) are the commonest cause of
heritable dilated cardiomyopathy. This study aimed to study the phenotypes and outcomes …
heritable dilated cardiomyopathy. This study aimed to study the phenotypes and outcomes …