Results 101 to 110 of about 197,302 (301)

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

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

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

White Matter Hyperintensity Burden and Short‐Interval Change Associated With Sleep Apnoea in the UK Biobank

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background and Purpose White matter hyperintensities (WMH) are a core neuroimaging marker of cerebral small vessel disease (CSVD). Sleep apnoea (SA) is a recognized vascular risk factor, but its associations with regional WMH burden, short‐interval WMH change and cognitive performance in population‐based cohorts remain incompletely defined. We
Peng Cheng, Diego Z. Carvalho, Shahid Karim, Anwar Chahal, Virend K. Somers   +4 more
wiley   +1 more source

Self-assessed knowledge of genomic medicine among non-genetics physicians - results from a nationwide Swedish survey

Genomic medicine is becoming essential to clinical everyday practice in many medical fields. At the same time ethical, economic and practical challenges impede the mainstreaming of genomic medicine.
Friedman, Mikaela, Soller, Maria Johansson, Nisselle, Amy, Björk, Joar, Malmgren, Charlotta Ingvoldstad   +4 more
core   +1 more source

Host genetics and larval host plant modulate microbiome structure and evolution underlying the intimate insect–microbe–plant interactions in Parnassius species on the Qinghai‐Tibet Plateau

Ecology and Evolution
Insects harbor a remarkable diversity of gut microbiomes critical for host survival, health, and fitness, but the mechanism of this structured symbiotic community remains poorly known, especially for the insect group consisting of many closely related ...
Chengyong Su, Tingting Xie, Lijun Jiang, Yunliang Wang, Ying Wang, Ruie Nie, Youjie Zhao, Bo He, Junye Ma, Qun Yang, Jiasheng Hao   +10 more
doaj   +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

Screening Routine Clinical Notes for Epilepsy Surgery Candidates Using Large Language Models

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Epilepsy surgery is severely underutilized despite proven efficacy, with substantial under‐referral of eligible patients in routine clinical practice. This study evaluated the potential role of large language models (LLMs) as decision‐support tools for screening unstructured clinical notes to identify epilepsy surgery candidates and ...
Uriel Fennig, Nadav Amir, Maya Schiller, Roni Loebenstein, Johnatan Nissan, Marina Boxer, Shany Guly Gofrit, Gal Goshen, Sándor Beniczky, Nicola Maggio   +9 more
wiley   +1 more source

Community Genetics: A New Discipline And Its Application In Brazil. [PDF]

, 2015
Community genetics is a new discipline which aims to provide genetic services to the community as a whole. As a science, community genetics encompasses all research needed to develop and evaluate its application. There is no question that the development
Silva R.B., Ramalho A.S.
core  

Genetic studies in the Amish community

Annals of Human Biology, 2005
The Amish community was established in Pennsylvania, Ohio and Indiana. They form a distinct and biologically isolated community by virtue of their strong cultural and religious beliefs. This paper outlines aspects of the Amish culture and reviews some of the recent genetic studies that have been undertaken in this community.
openaire   +2 more sources