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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
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Clinical genetics: Medical genetics [PDF]
European Journal of Human Genetics, 2006 In these last years, there has been a proliferation of new textbooks and of new editions of classical textbooks on medical genetics targeted at medical students. However, these books are all over 400 pages with increasingly complex explanations of new discoveries and concepts.
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F1000Research, 2016 The motor neuron disease amyotrophic lateral sclerosis (ALS) typically begins with localized muscle weakness. Progressive, widespread paralysis often follows over a few years.
Steven A. Frank
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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
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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
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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
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F1000Research, 2017 Somatic variation in DNA can cause cells to deviate from the preordained genomic path in both disease and healthy conditions. Here, using exome sequencing of paired tissue samples, we show that the normal human brain harbors somatic single base ...
Anchal Sharma +10 more
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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
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First-year students’ perceptions of team-based learning in a new medical genetics course
Revista Brasileira de Educação Médica, 2019 Background Medical education has evolved considerably over the last few years, especially through adoption of new technologies and active methodologies. These methodologies aim to improve learning and engage students deeply in the process.
Vinicius Canato Santana +2 more
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Die gesondheidsvoorligtingsfunksie van die verpleegkundige met betrekking tot mensgenetika
Curationis, 1981 The nurse, as a key person in health services, has an essential role in health education regarding human and medical genetics. This education is given at both community and individual level.
Frieda Paton
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