Results 31 to 40 of about 10,048,978 (405)
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
doaj +1 more source
Human genetics of meningococcal infections
Neisseria meningitidis is a leading cause of bacterial septicaemia and meningitis worldwide. Meningococcal disease is rare but can be life threatening with a tendency to affect children.
Stephanie Hodeib+3 more
semanticscholar +1 more source
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
openaire +3 more sources
Advancing Human Genetics Research and Drug Discovery through Exome Sequencing of the UK Biobank
The UK Biobank Exome Sequencing Consortium (UKB-ESC) is a unique private/public partnership between the UK Biobank and eight biopharma companies that will sequence the exomes of all ~500,000 UK Biobank participants.
J. Szustakowski+38 more
semanticscholar +1 more source
Misinformation, Misrepresentation, and Misuse of Human Behavioral Genetics Research [PDF]
Kaplan discusses the limitations of human behavioral genetics studies, highlighting the research limitations inherent in studying humans and the narrow policy and legal applicability of results arising from behavioral genetics ...
Bergman, Karl-Olof+2 more
core +2 more sources
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
openaire +5 more sources
Tinea imbricata is a unique fungal skin disease that mostly affects indigenous populations in Southeast Asia, Oceania, and Central and South America. The control and management of this disease among these communities are challenging given their remote ...
Yi Xian Er+7 more
doaj +1 more source
Human Genetic Research in Pakistan: Challenges and Way forward
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
doaj +1 more source
Human genetics of leishmania infections
Identifying genetic risk factors for parasitic infections such as the leishmaniases could provide important leads for improved therapies and vaccines.
J. Blackwell, M. Fakiola, L. Castellucci
semanticscholar +1 more source
The homeodomain transcription factor Shox2 controls the development and function of the native cardiac pacemaker, the sinoatrial node (SAN). Moreover, SHOX2 mutations have been associated with cardiac arrhythmias in humans.
Sandra Hoffmann+9 more
doaj +1 more source