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Biochemistry of Human Genetics [PDF]

open access: bronzeArchives of Neurology, 1960
Designated with pride as one of the sponsor's anniversary publications commemorating 10 years of effective promotion of "international cooperation in medical and chemical research," this volume containing the proceedings of a well-organized symposium on the biochemistry of gene action is another feather in the cap of the Ciba Foundation.
P. H. A. Sneath
openalex   +4 more sources

HUMAN GENETICS [PDF]

open access: bronzeAnnual Review of Genetics, 1967
H. Eldon Sutton
openalex   +3 more sources

Mendelian randomization suggests a bidirectional, causal relationship between physical inactivity and adiposity

open access: yeseLife, 2022
Physical inactivity and increased sedentary time are associated with excess weight gain in observational studies. However, some longitudinal studies indicate reverse causality where weight gain leads to physical inactivity and increased sedentary time ...
Germán D Carrasquilla   +4 more
doaj   +1 more source

Mutation saturation for fitness effects at human CpG sites

open access: yeseLife, 2021
Whole exome sequences have now been collected for millions of humans, with the related goals of identifying pathogenic mutations in patients and establishing reference repositories of data from unaffected individuals.
Ipsita Agarwal, Molly Przeworski
doaj   +1 more source

Genotoxicity of 22% Carbamide Peroxide Bleaching Agent on Oral Cells using the Micronucleus Technique [PDF]

open access: yesJournal of Clinical and Diagnostic Research, 2020
Introduction: Several bleaching products and methods were introduced over the last years. However, the consequences of 22% carbamide peroxide on the genetic material of oral mucosal cells is uncertain.
Laís Vargas Bonacina   +7 more
doaj   +1 more source

Current State of Compulsory Basic and Clinical Courses in Genetics for Medical Students at Medical Faculties in Balkan Countries With Slavic Languages

open access: yesFrontiers in Genetics, 2022
Introduction: In this study we aimed to perform the first research on the current state of compulsory basic and clinical courses in genetics for medical students offered at medical faculties in six Balkan countries with Slavic languages (Bosnia and ...
Nina Pereza   +11 more
doaj   +1 more source

A Multi-Omics Approach Using a Mouse Model of Cardiac Malformations for Prioritization of Human Congenital Heart Disease Contributing Genes

open access: yesFrontiers in Cardiovascular Medicine, 2021
Congenital heart disease (CHD) is the most common type of birth defect, affecting ~1% of all live births. Malformations of the cardiac outflow tract (OFT) account for ~30% of all CHD and include a range of CHDs from bicuspid aortic valve (BAV) to ...
Adrianna Matos-Nieves   +9 more
doaj   +1 more source

Cell-free DNA screening for sex chromosomal aneuploidies in 9985 pregnancies: Italian single experience

open access: yesBMC Research Notes, 2020
Objective Non invasive prenatal testing (NIPT) using cell-free fetal DNA (cffDNA) has been widely accepted in recent years to detect common fetal autosomal chromosome aneuploidies and sex chromosome aneuploidies (SCAs).
Katia Margiotti   +8 more
doaj   +1 more source

The Opportunities and Challenges of Integrating Population Histories Into Genetic Studies for Diverse Populations: A Motivating Example From Native Hawaiians

open access: yesFrontiers in Genetics, 2021
There is a well-recognized need to include diverse populations in genetic studies, but several obstacles continue to be prohibitive, including (but are not limited to) the difficulty of recruiting individuals from diverse populations in large numbers and
Charleston W. K. Chiang   +1 more
doaj   +1 more source

Staphylococcus aureus adaptive evolution: Recent insights on how immune evasion, immunometabolic subversion and host genetics impact vaccine development

open access: yesFrontiers in Cellular and Infection Microbiology, 2022
Despite meritorious attempts, a S. aureus vaccine that prevents infection or mitigates severity has not yet achieved efficacy endpoints in prospective, randomized clinical trials. This experience underscores the complexity of host-S. aureus interactions,
Tania Wong Fok Lung   +10 more
doaj   +1 more source

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