Results 81 to 90 of about 579,610 (178)

Further Evidence That the CFTR Variant c.2620-6T>C Is Benign

Case Reports in Genetics, 2017
The c.2620-6T>C variant in the CFTR gene is a rare variant about which little is known. We present an asymptomatic adult who has this variant as well as the well described delta F508 pathogenic variant in transpresentation.
Violet I. Wallerstein, Robert Wallerstein   +1 more
doaj   +1 more source

The impact of the Journal of Community Genetics: Good Health and Wellbeing, Quality Education, and Reduced Inequalities. [PDF]

J Community Genet, 2023
Cornel MC, Clarke A.
europepmc   +1 more source

Re-envisioning community genetics: community empowerment in preventive genomics. [PDF]

J Community Genet, 2023
Wand H, Martschenko DO, Smitherman A, Michelson S, Pun T, Witte JS, Scott SA, Cho MK, Ashley EA, Preventive Genomics Program Co-Design Working Group.   +9 more
europepmc   +1 more source

Clinical Genetics in Britain: Origins and development [PDF]

, 2010
Annotated and edited transcript of a Witness Seminar held on 23 September 2008. Introduction by Professor Sir John Bell, Uiversity of Oxford.First published by the Wellcome Trust Centre for the History of Medicine at UCL, 2010.©The Trustee of the ...
Harper, PS, Reynolds, LA, Tansey, EM
core  

The Inheritance of Hearing Loss and Deafness: A Historical Perspective

Audiology Research
If the term “genetics” is a relatively recent proposition, introduced in 1905 by English biologist William Bateson, who rediscovered and spread in the scientific community Mendel’s principles of inheritance, since the dawn of human civilization the ...
Alessandro Martini, Andrea Cozza, Valerio Maria Di Pasquale Fiasca   +2 more
doaj   +1 more source

Key Issues in Essential Tremor Genetics Research: Where Are We Now and How Can We Move Forward?

Tremor and Other Hyperkinetic Movements, 2013
Genetics research is an avenue towards understanding essential tremor (ET). Advances have been made in genetic linkage and association: there are three reported ET susceptibility loci, and mixed but growing data on risk associations.
Claudia M. Testa
doaj   +1 more source

Community-level evolutionary processes: Linking community genetics with replicator-interactor theory. [PDF]

Proc Natl Acad Sci U S A, 2022
Lean CH, Doolittle WF, Bielawski JP.
europepmc   +1 more source

Community Genetics screening in a pandemic: solutions for pre-test education, informed consent, and specimen collection. [PDF]

Eur J Hum Genet, 2023
Terrill B, McKnight L, Pearce A, Gordon H, Lo W, Lee IJ, Runiewicz M, Palmer A, Andrews L, Kirk E, Goldberg D, Tucker J, Murray D, Kaplan W, Kummerfeld S, Burnett L.   +15 more
europepmc   +1 more source

From Observers to Participants: Joining the Scientific Community [PDF]

, 2007
In this essay, we have integrated the voices of our mentors and students to explore 45 years of undergraduate research experiences and their role in shaping our scientific community.
Ferguson, Carolyn J., McDaniel, Carl, Reinke, Catherine A., Singer, Susan R., Vandermeer, Julia, Williamson, Adam   +5 more
core   +1 more source

Community Collaboration in Public Health Genetic Literacy: Methods for Co-Designing Educational Resources for Equitable Genomics Research and Practice

Public Health Genomics
Introduction: Unequal representation in genetic and genomic research is due to various factors, including historically inequitable and unjust institutional research practices, potential mistrust of biomedical research among underrepresented ...
Juhi Salunke, Grace Byfield, Sabrina N. Powell, Daniel F. Torres, Grace Leon-Lozano, Jahnelle Jackson, Andreas K. Orphanides, Jonathan Shaw, Thomas Owens, Jonathan S. Berg, Elizabeth Branch, Lennin Caro, Stefanija Giric, Julianne M. O'Daniel, Bradford C. Powell, Ken Ray, Carla Robinson, Samantha Schilling, Nicole Shaw, Erin Song, Margaret Waltz, Megan C. Roberts, Ann Katherine M. Foreman, Kimberly Foss, Laura V. Milko   +24 more
doaj   +1 more source