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Associations between genetics, medical status, physical exercise and psychological well-being in adults with cystic fibrosis. [PDF]
BMJ Open Respir Res, 2016 Background Cystic fibrosis (CF) is the most common autosomal recessive, life-shortening disease among people of European origin. Type of genetic mutation and regular physical exercise has an impact on clinical outcome. This cross-sectional study explores
Backström-Eriksson L +4 more
europepmc +2 more sources
Medical Education Online, 2023 The importance of medical genetics and genomics in medical practice has grown proportionally with scientific advances in these areas.Purpose The objective of this study was to determine physician perceptions regarding the importance of and comfort with ...
Emilie Logan French +3 more
doaj +2 more sources
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.
C. Stoll
openaire +2 more sources
Long-Read Sequencing Emerging in Medical Genetics
Frontiers in Genetics, 2019 The wide implementation of next-generation sequencing (NGS) technologies has revolutionized the field of medical genetics. However, the short read lengths of currently used sequencing approaches pose a limitation for the identification of structural ...
Tuomo Mantere +7 more
doaj +2 more sources
Analysis of duplications versus deletions in the dystrophin gene in Serbian cohort with dystrophinopathies [PDF]
Vojnosanitetski Pregled, 2020 Background/Aim. Duchenne muscular dystrophy (DMD) and its allelic form Becker muscular dystrophy (BMD) are X-linked diseases that affect males, characterized by progressive muscle and cardiopulmonary weakness, especially in DMD as a severe form of the ...
Maksić Jasmina +7 more
doaj +1 more source
ContIG: Self-supervised Multimodal Contrastive Learning for Medical Imaging with Genetics [PDF]
Computer Vision and Pattern Recognition, 2021 High annotation costs are a substantial bottleneck in applying modern deep learning architectures to clinically relevant medical use cases, substantiating the need for novel algorithms to learn from unlabeled data. In this work, we propose ContIG, a self-
Aiham Taleb +3 more
semanticscholar +1 more source
Genetics in Medicine, 2022 PURPOSE This workgroup aimed to develop an evidence-based clinical practice guideline for the use of noninvasive prenatal screening (NIPS) for pregnant individuals at general risk for fetal trisomy 21, trisomy 18, or trisomy 13 and to evaluate the ...
J. Dungan +7 more
semanticscholar +1 more source
Immune-mediated genesis of multiple sclerosis
Journal of Translational Autoimmunity, 2020 Multiple sclerosis (MS) is widely acknowledged to be an autoimmune disease affecting the neuronal myelin structure of the CNS. Autoantigens recognized as the target of this autoimmune process are: myelin basal protein, anti-proteolipid protein ...
Salvatore Cavallo, MD, Specialist in Medical Genetics
doaj +1 more source
Frontiers in Genetics, 2022 Introduction: In this study we aimed to perform the first research on the current state of compulsory basic and clinical courses in genetics for medical students offered at medical faculties in six Balkan countries with Slavic languages (Bosnia and ...
Nina Pereza +11 more
doaj +1 more source
A Case-Based Active Learning Session for Medical Genetics Resources
MedEdPORTAL, 2021 Introduction As the clinical applications of medical genetics and genomics continue to expand, nongenetics professionals increasingly find themselves in the position of managing patients with genetic conditions. To prepare medical students to handle this
Hana Anderson +3 more
doaj +1 more source