Results 231 to 240 of about 1,449,932 (344)

Racial/Ethnic Disparities in Anticoagulation for Atrial Fibrillation by Sex and Within High and Low Stroke Risk Populations. [PDF]

open access: yesJ Innov Card Rhythm Manag
Tate WJ   +11 more
europepmc   +1 more source

Parental Communication With their Children about Cancer Risk and DTC Cascade Genetic Testing: Implications for Genetic Education and Counseling

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cascade genetic testing for cancer risk can influence relatives' health outcomes, as they may benefit from risk reduction and screening. However, clinical guidelines discourage predictive genetic testing in childhood—including direct‐to‐consumer (DTC) testing.
Marcelo M. Sleiman Jr.   +14 more
wiley   +1 more source

Diagnostic Yield of Genome Sequencing Versus Exome Sequencing in Pediatric Patients With Rare Phenotypes: A Systematic Review and Meta‐Analysis

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Rare diseases affect 6% of Western societies and are a leading cause of pediatric mortality. The popularization of Next Generation Sequencing technologies, especially exome sequencing (ES), revolutionized the diagnosis of children with rare disease. Still, most patients face extensive diagnostic odysseys and remain undiagnosed.
Anna Luiza Braga Albuquerque   +7 more
wiley   +1 more source

The Expanding Clinical and Genetic Spectrum of Muscle Glycogen Storage Disease 0, (GSD0B)

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Glycogen storage disorders are a group of genetic disorders affecting glucose homeostasis in the body. Muscular glycogen stores are essential for liberating glucose for energy supply during bursts of activity and sustained muscle work. Muscle glycogen storage disease 0 (GSD0B) is associated with biallelic variants in GYS1 causing muscular ...
Sarah Donoghue   +16 more
wiley   +1 more source

External Validation of an EHR-Based Model for Risk of Patient No-Show in Primary Care.

open access: yesJAMA Netw Open
Agovi AM   +7 more
europepmc   +1 more source

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