Results 71 to 80 of about 753,352 (304)
Wellcome Open Research, 2017 Detection of deletions and duplications of whole exons (exon CNVs) is a key requirement of genetic testing. Accurate detection of this variant type has proved very challenging in targeted next-generation sequencing (NGS) data, particularly if only a ...
Shazia Mahamdallie +10 more
doaj +1 more source
FEBS Letters, EarlyView.The Ile181Asn variant of human UDP‐xylose synthase (hUXS1), associated with a short‐stature genetic syndrome, has previously been reported as inactive. Our findings demonstrate that Ile181Asn‐hUXS1 retains catalytic activity similar to the wild‐type but exhibits reduced stability, a looser oligomeric state, and an increased tendency to precipitate ...
Tuo Li +2 more
wiley +1 more source
Valeriy Pavlovich Puzyryov (to the 60th birthday)
Бюллетень сибирской медицины, 2007 Creative biography of the famous home scientist, medical doctor, honoured scientist of Russia, academician of RAMS, director of the Institute of Medical Genetics , TSC, SB of RAMS , chief of medical genetics chair of the Siberian State Medical University
Editorial Article
doaj +2 more sources
Advances in Medical Education and Practice, 2015 Michael J Wolyniak,1 Lynne T Bemis,2 Amy J Prunuske2 1Department of Biology, Hampden-Sydney College, Hampden-Sydney, VA, 2Department of Biomedical Sciences, University of Minnesota Medical School, Duluth, MN, USA Abstract: Genetics is an essential ...
Wolyniak MJ, Bemis LT, Prunuske AJ
doaj
Population medical genetics: translating science to the community
Genetics and Molecular Biology, 2019 Rare genetic disorders are currently in the spotlight due to the elevated number of different conditions and significant total number of affected patients.
Roberto Giugliani +21 more
doaj +1 more source
FEBS Letters, EarlyView.We identified a systemic, progressive loss of protein S‐glutathionylation—detected by nonreducing western blotting—alongside dysregulation of glutathione‐cycle enzymes in both neuronal and peripheral tissues of Taiwanese SMA mice. These alterations were partially rescued by SMN antisense oligonucleotide therapy, revealing persistent redox imbalance as ...
Sofia Vrettou, Brunhilde Wirth
wiley +1 more source
, 2007 List of contributors -- Acknowledgements -- 1. Introduction: new genetic identities? / Paul Atkinson and Peter Glasner -- 2. Genetic advocacy groups, science and biovalue: creating political economies of hope / Carlos Novas -- 3.
core
The Genetic Testing Stewardship Program:: A Bridge to Precision Diagnostics for the Non-genetics Medical Provider. [PDF]
Dela J Public Health, 2021 Thomas M +6 more
europepmc +1 more source
FEBS Letters, EarlyView.In this study, we found that human cervical‐derived adipocytes maintain intracellular iron level by regulating the expression of iron transport‐related proteins during adrenergic stimulation. Melanotransferrin is predicted to interact with transferrin receptor 1 based on in silico analysis.
Rahaf Alrifai +9 more
wiley +1 more source
Statement of the American College of Medical Genetics on Universal Newborn Hearing Screening
, 2000 policy ...
American College of Medical Genetics
core