Results 11 to 20 of about 5,449,771 (353)
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
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
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
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
[Medical genetics consultation]. [PDF]
La Revue du praticien, 2011 Medical genetics have three components: clinical, chromosomal and molecular The role of this clinical-biological discipline is to diagnose genetic diseases, participate in the management of patients, offer genetic counselling to family members concerning the probability of occurrence or reoccurrence of genetic diseases, and suggest preventive measures ...
D. Bonneau
openaire +4 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
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
A structural variation reference for medical and population genetics
Nature, 2020 Structural variants (SVs) rearrange large segments of DNA1 and can have profound consequences in evolution and human disease2,3. As national biobanks, disease-association studies, and clinical genetic testing have grown increasingly reliant on genome ...
Ryan L. Collins +183 more
semanticscholar +1 more source