Results 31 to 40 of about 4,953,028 (235)
Medical genetics education in the midst of the COVID‐19 pandemic: Shared resources
American Journal of Medical Genetics. Part A, 2020 In the midst of the COVID‐19 pandemic, it is appropriate that our focus is on patient care and preparation. However, the genetics community is well poised to fill in the educational gap created by medical students transitioning to limiting patient ...
D. Regier, Wendy E Smith, H. M. Byers
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Management of biobanking for medical genetics research
Кардиоваскулярная терапия и профилактика, 2022 Biobanking is one of the most important elements of the modern infrastructure for biomedical research. Organization of a biobank on the basis of the N. P.
V. Yu. Tabakov
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Genetics in medical practice [PDF]
Genetics in Medicine, 2002 Medical genetics has been formally recognized as a medical specialty in the United States only within the past decade. Initially, medical genetics was concerned with relatively rare single gene or chromosomal disorders, but with the sequencing of the human genome, genetics has become the driving force in medical research and is now poised for ...
openaire +2 more sources
The role of genetic counselling in genomic era
Apollo Medicine, 2023 Advances in genetic and genomic knowledge have revolutionized the diagnosis, management, treatment, and prevention of genetic disorders. Genetic counselors interpret and explain genomic information to patients, order the right genetic/genomic tests ...
Tadikonda Sri Sravani, Q Hasan
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Current conditions in medical genetics practice
Genetics in Medicine, 2019 PurposeThis study of current conditions in medical genetics practice is designed to inform public policy development and present possible solutions for improving access to genetic services.MethodsUsing the American College of Medical Genetics and ...
Deborah R. Maiese +4 more
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Resolving complex structural variants via nanopore sequencing
Frontiers in Genetics, 2023 The recent development of high-throughput sequencing platforms provided impressive insights into the field of human genetics and contributed to considering structural variants (SVs) as the hallmark of genome instability, leading to the establishment of ...
Simone Romagnoli +2 more
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罕见病研究The diagnosis and treatment of rare diseases have long been significant challenges in the medical practice. With the rapid development of genomics and genetics, medical genetics has been widely applied in the diagnosis and treatment of rare diseases ...
LIU Yaping, SHEN Min, ZHANG Shuyang
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Alʹmanah Kliničeskoj Mediciny, 2019 Cardiomyopathy (CMP) is a common group of cardiovascular disorders. Genetic (primary) cardiomyopathies are related to abnormalities in more than 100 genes, including the DES gene encoding desmin protein.
K. S. Kochergin-Nikitsky +3 more
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eLife, 2017 Achieving confidence in the causality of a disease locus is a complex task that often requires supporting data from both statistical genetics and clinical genomics. Here we describe a combined approach to identify and characterize a genetic disorder that
Gillian Morven Belbin +31 more
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Tropical Medicine and Infectious Disease, 2019 Several diseases and vulnerabilities associated with genetic or microbial factors are more frequent among populations of Oceanian, Non-European, Non-Asian descent (ONENA). ONENA are specific and have long been isolated geographically.
Arnaud Tarantola +10 more
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