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

open access: yesMedical 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

History of medical genetics in South Africa [PDF]

open access: yesJournal of the Colleges of Medicine of South Africa
No abstract available.
Jennifer G. Kromberg, Grietje de Jong
doaj   +2 more sources

A Case-Based Active Learning Session for Medical Genetics Resources [PDF]

open access: yesMedEdPORTAL, 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   +2 more sources

Medical genetics in China. [PDF]

open access: bronzeJournal of Medical Genetics, 1979
In many areas the Chinese are considered behind the western world in their biomedical research, but they are keen to catch up, have all the contacts needed for this, and work extremely hard. Human genetics seems to have been particularly affected during the cultural revolution. This may be because they were, until recently, quite significantly affected
Walter F. Bodmer, C. A. Clarke
openalex   +5 more sources

Double heterozygous mutation in RAD50 and ATM genes in a Peruvian family with five cancer types: a case report

open access: yesRevista de la Facultad de Ciencias Médicas de Córdoba, 2022
Introduction: Cancer is the second leading cause of death worldwide, with 70% of cancer deaths occurring in low- or middle- income countries. To mitigate the mortality of this disease, it is recommended the evaluation of multiple high-penetrance genes.
Enrique Eduardo Sánchez Castro   +2 more
doaj   +1 more source

Genetic resources and genetic technologies for the development of the Northern Territories: on the results of the Second Conference (March 13–15, 2023)

open access: yesБиотехнология и селекция растений, 2023
A series of events in honor of the centenary of the Polar Experiment Station of VIR founded by Nikolay Ivanovich Vavilov, was opened by the Second Scientific Conference “Genetic Resources and Genetic Technologies for the Development of Northern ...
E. K. Khlestkina   +3 more
doaj   +1 more source

Immune-mediated genesis of multiple sclerosis

open access: yesJournal 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

Solving inherited white matter disorder etiologies in the neurology clinic: Challenges and lessons learned using next-generation sequencing

open access: yesFrontiers in Neurology, 2023
IntroductionRare neurodevelopmental disorders, including inherited white matter disorders or leukodystrophies, often present a diagnostic challenge on a genetic level given the large number of causal genes associated with a range of disease subtypes ...
Stefanie Perrier   +28 more
doaj   +1 more source

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