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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
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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
D. Bonneau
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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
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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
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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
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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
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THE ROLE OF GENETICS IN MODERN MEDICINE
Байкальский медицинский журнал, 2022 The lecture examines the role of modern genetics and its significance for medicine. The goals of genetics and its structure are determined. It is shown that modern medical genetics is divided into general genetics, clinical genetics and laboratory ...
Elena Anatolyevna Tkachuk +1 more
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Competency Profile in Genetics for Physicians in Brazil: A Proposal of the Brazilian Society of Medical Genetics and Genomics [PDF]
Revista Brasileira de Educação Médica, 2020 Training in genetics is fundamental to understanding the biological aspects of the health-disease binomial. Moreover, with the change in the epidemiological profile, genetically determined disorders have become more relevant as a public health concern ...
Débora Gusmão Melo +3 more
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Exon Sequencing of HNF1β in Chinese Patients with Early-Onset Diabetes [PDF]
Diabetes & Metabolism JournalBackground Maturity-onset diabetes of the young (MODY) due to variants of hepatocyte nuclear factor 1-beta (HNF1β) (MODY5) has not been well studied in the Chinese population.
Siqian Gong +18 more
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Aplicación de la genética de poblaciones en el ámbito de la medicina
Biomédica: revista del Instituto Nacional de Salud, 2014 Las poblaciones humanas obedecen a los mismos supuestos evolutivos que el resto de los organismos, aunque mezclados con elementos sociales y culturales que pueden promover la expresión de ciertas enfermedades en grupos étnicos específicos, causadas ...
Pablo Octavio-Aguilar +1 more
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