Results 191 to 200 of about 301,871 (346)

Left Ventricular Mass, Brain Magnetic Resonance Imaging, and Cognitive Performance [PDF]

open access: bronze, 2017
Bernhard Haring   +10 more
openalex   +1 more source

Long‐Read Genome Sequencing Establishes Biallelic Pathogenic Variants in DNM1 With Distinct Functional Effects as the Cause of Early Infantile Developmental and Epileptic Encephalopathy

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Heterozygous de novo and inherited biallelic pathogenic variants in DNM1 have been reported in association with autosomal dominant (AD) and autosomal recessive (AR) developmental and epileptic encephalopathy, respectively, due to aberrant dynamin function or expression, with each inheritance pattern associated with a different mechanism of ...
Andy Drackley   +7 more
wiley   +1 more source

Impact of Long‐Term Burden of Body Mass Index and Blood Pressure From Childhood on Adult Left Ventricular Structure and Function [PDF]

open access: gold, 2020
Yang Liu   +9 more
openalex   +1 more source

Marfan Syndrome Associated With Intellectual Disability and Behavioral Anomalies: Further Evidence for the Effect of Compound Heterozygous Variants in FBN1 on Phenotypic Severity

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Marfan syndrome (MFS) is a rare connective tissue disorder characterized by involvement of the cardiovascular, ocular, and musculoskeletal systems. Pathogenic variants in FBN1 cause most of the MFS cases; however, intellectual disability (ID) is rarely observed. A non‐consanguineous Pakistani family with four affected individuals was recruited.
Azmatullah Khan   +4 more
wiley   +1 more source

Prognostic Value of Cardiac Troponin I and Left Ventricular Hypertrophy in Mortality of Chronic Hemodialysis Patients [PDF]

open access: yes
Cardiovascular events are the most common cause of death in hemodialysis patients. Cardiac biomarkers and especially Cardiac troponin I has been used as a prognostic marker in hemodialysis patients and there is some controversies about its value.
بشردوست, بهمن   +3 more
core  

Establishment of a biosafe murine model of skeletal tuberculosis using Mycobacterium smegmatis

open access: yesAnimal Models and Experimental Medicine, EarlyView.
This study developed a biosafe, accessible, and versatile murine model of bone TB using Mycobacterium smegmatis, a fast‐growing, nonpathogenic mycobacterial species with high genomic homology to Mycobacterium tuberculosis. Three infection routes—subperiosteal calvarial injection, intratibial injection, and intracardiac (left ventricular) inoculation ...
Yewei Jia   +12 more
wiley   +1 more source

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