Results 1 to 10 of about 5,647,381 (313)

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, Bergsten-Brucefors A, Hjelte L, Melin B, Sorjonen K.   +4 more
europepmc   +2 more sources

Physician Perception of the Importance of Medical Genetics and Genomics in Medical Education and Clinical Practice

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, Leena Kader, Erin E. Young, Joseph D. Fontes   +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, Tuomo Mantere, Simone Kersten, Simone Kersten, Simone Kersten, Alexander Hoischen, Alexander Hoischen, Alexander Hoischen   +7 more
doaj   +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

Integrating genetics into medical curriculum: evaluating a dedicated clinical genetics module at Dow university of health sciences [PDF]

BMC Medical Education
Background Advances in clinical genetics have significantly impacted modern healthcare, making genetic knowledge essential for today’s medical professionals. It is crucial for general physicians to recognize when genetic or genomic testing is appropriate
Misbah Iqbal Hanif, Muhammad Furqan Bari, Mushtaq Hussain, Naheed Khan, Nazli Hossain, Muhammad Saeed Quraishy, Salman Kirmani   +6 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, Dobričić Valerija, Rasulić Lukas, Maksimović Nela, Branaković Marija, Milić-Rašić Vedrana, Rakočević-Stojanović Vidosava, Novaković Ivana   +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, Matthias Kirchler, Remo Monti, Christoph Lippert   +3 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

Current State of Compulsory Basic and Clinical Courses in Genetics for Medical Students at Medical Faculties in Balkan Countries With Slavic Languages

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, Nina Pereza, Rifet Terzić, Dijana Plaseska-Karanfilska, Olivera Miljanović, Olivera Miljanović, Ivana Novaković, Željka Poslon, Željka Poslon, Saša Ostojić, Saša Ostojić, Borut Peterlin   +11 more
doaj   +1 more source