Results 31 to 40 of about 10,086,238 (407)

Human Genetic Diseases [PDF]

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, Peter Riederer, Han-Xiang Deng, Weidong Le, Wei Xiong, Yi Guo   +5 more
openaire   +3 more sources

Genetics of human neural tube defects [PDF]

, 2009
Neural tube defects (NTDs) are common, severe congenital malformations whose causation involves multiple genes and environmental factors. Although more than 200 genes are known to cause NTDs in mice, there has been rather limited progress in delineating ...
A. J. Copp, Au, Beaudin, Beaudin, Bennett, Birn, Blom, Boyles, Brody, Brown, Carmichael, Carroll, Carroll, Chen, Chen, Chen, Christensen, Christensen, Cockroft, Copp, Copp, Dalal, Davidson, De Marco, De Marco, Deak, Deak, Detrait, Doudney, Dunlevy, Dunlevy, Elmore, Enaw, Epstein, Estibeiro, Etheridge, Franke, Frosst, Gelineau-van Waes, Gonzalez-Herrera, Gos, Greene, Greene, Greene, Greene, Gustavsson, Gustavsson, Harris, Harris, Jensen, Jensen, Jensen, Jessen, Joosten, Kennedy, Khandelwal, Kibar, Kibar, Kibar, Kibar, King, Kirke, Krasnow, Lakkis, Li, Li, Lorenz, Lu, Lu, Lu, McEwen, Mills, Mitchell, Molloy, Montcouquiol, Murdoch, Murdoch, Murdoch, N. D.E. Greene, Narimatsu, Neumann, O'Leary, O'leary, Okano, P. Stanier, Park, Parker, Parle-McDermott, Parle-McDermott, Qian, Relton, Relton, Scott, Shang, Shaw, Shields, Smithells, Stamm, Stamm, Steegers-Theunissen, Stegmann, Strutt, Strutt, Stumpf, Swanson, Swanson, Ting, Toepoel, Trembath, van der Linden, van der Linden, van der Linden, van der Linden, van der Put, van Straaten, Vanaerts, vandenBerg, Vieira, Volcik, Wallingford, Wang, Watanabe, Wilding, Wilson, Wu, Zhang, Zhu, Zhu, Zhu, Zhu, Zhu, Zohn   +131 more
core   +2 more sources

Advancing Human Genetics Research and Drug Discovery through Exome Sequencing of the UK Biobank

medRxiv, 2020
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, S. Balasubramanian, A. Sasson, S. Khalid, G. Paola, Bronson, E. Kvikstad, E. Wong, Daren Liu, J. W. Davis, C. Haefliger, A., Katrina Loomis, Rajesh Mikkilineni, H. J. Noh, Samir Wadhawan, X. Bai, Alicia, Hawes, O. Krasheninina, Ricardo Ulloa, Alexander E. Lopez, Erin N. Smith, Jeffrey Waring, C. Whelan, E. Tsai, J. Overton, W. Salerno, H. Jacob, Sandor, Szalma, H. Runz, Gregory Hinkle, P. Nioi, S. Petrovski, Melissa R. Miller, A. Baras, L. Mitnaul, J. Reid   +38 more
semanticscholar   +1 more source

Human genetic admixture

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
openaire   +5 more sources

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
doaj   +1 more source

Human genetics of leishmania infections

Human Genetics, 2020
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

Genetics of human hydrocephalus [PDF]

Journal of Neurology, 2006
Human hydrocephalus is a common medical condition that is characterized by abnormalities in the flow or resorption of cerebrospinal fluid (CSF), resulting in ventricular dilatation. Human hydrocephalus can be classified into two clinical forms, congenital and acquired.
Jun Zhang, Daniele Rigamonti, Michael A. Williams   +2 more
openaire   +3 more sources

Comparative expression analysis of Shox2-deficient embryonic stem cell-derived sinoatrial node-like cells

Stem Cell Research, 2017
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, Stefanie Schmitteckert, Anne Griesbeck, Hannes Preiss, Simon Sumer, Alexandra Rolletschek, Martin Granzow, Volker Eckstein, Beate Niesler, Gudrun A. Rappold   +9 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

Frontiers 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, Charleston W. K. Chiang   +1 more
doaj   +1 more source

Fabricated humans? Human genetics, ethics and the Christian wisdom tradition [PDF]

, 2005
This is a PDF version of an article published in Dialog© 2005. The definitive version is available at www.blackwell-synergy.com.This article discusses moral and ethical issues surrounding genetic screening and testing and argues that principles of ...
Deane-Drummond, Celia
core   +2 more sources