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Rewriting Human History and Empowering Indigenous Communities with Genome Editing Tools. [PDF]
, 2020 Appropriate empirical-based evidence and detailed theoretical considerations should be used for evolutionary explanations of phenotypic variation observed in the field of human population genetics (especially Indigenous populations). Investigators within
Fox, Keolu +2 more
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BioMed Research International, 2015 There is no question that the rapid advance in genetic technology is changing our viewpoint on medical practice, which is dramatically improving the diagnosis, prognosis, and therapy of human genetic disease. In particular, the next-generation sequencing (NGS) technologies, such as exome sequencing and whole-genome sequencing, and gene editing ...
Hao Deng +5 more
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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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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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Human Mitochondrial Genetics [PDF]
Biotechnology and Genetic Engineering Reviews, 2000 (2000). Human Mitochondrial Genetics. Biotechnology and Genetic Engineering Reviews: Vol. 17, No. 1, pp. 147-178.
L A, Tully, B C, Levin
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PLOS Genetics, 2021 Throughout human history, large-scale migrations have facilitated the formation of populations with ancestry from multiple previously separated populations. This process leads to subsequent shuffling of genetic ancestry through recombination, producing variation in ancestry between populations, among individuals in a population, and along the genome ...
Katharine L. Korunes, Amy Goldberg
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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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