Results 1 to 10 of about 808,866 (169)
Scientific Reports, 2021 SHANK2 mutations have been identified in individuals with neurodevelopmental disorders, including intellectual disability and autism spectrum disorders (ASD).
Christine Unsicker +5 more
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BMC 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
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Scientific Reports, 2021 Sex-specific differences in prevalence are well documented for many common, complex diseases, especially for immune-mediated diseases, yet the precise mechanisms through which factors associated with biological sex exert their effects throughout life are
Michelle M. Stein +8 more
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BMC Neurology, 2022 Background Myalgic encephalomyelitis / chronic fatigue syndrome (ME/CFS) is a common, long-term condition characterised by post-exertional malaise, often with fatigue that is not significantly relieved by rest.
Andy Devereux-Cooke +27 more
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Frontiers in Cardiovascular Medicine, 2023 Congenital aortic valve stenosis (AVS) is one of the most common valve anomalies and accounts for 3%–6% of cardiac malformations. As congenital AVS is often progressive, many patients, both children and adults, require transcatheter or surgical ...
Jun Yasuhara +8 more
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Human Genetic Research in Pakistan: Challenges and Way forward
Life and Science, 2021 The 90s ushered in the era of molecular genetics in Pakistan. Our centuries’ old tradition of consanguineous marriages, resulting in the availability of large, inbred families with inherited disorders, proved to be a goldmine for geneticists, working to ...
Syed Muhammad Imran Majeed +1 more
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The Genetics of Human Behavior
Columbia Undergraduate Science Journal, 2022 Behavioral disorders arise from environmental, lifestyle, and genetic factors. Past studies have shown evidence for the hereditability of several major behavioral neuropsychiatric disorders, such as schizophrenia, depression, and bipolar disorder.
Kim, Katherine, Streid, David
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Thousands of Qatari genomes inform human migration history and improve imputation of Arab haplotypes
Nature Communications, 2021 Arab populations are relatively understudied, especially their genetic architecture and historical relationship with early founders of the ancient Near East.
Rozaimi Mohamad Razali +10 more
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Mutation saturation for fitness effects at human CpG sites
eLife, 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
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eLife, 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
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