Medical Genetic Cases

Case Reports in Genetics | Hindawi

https://www.hindawi.com/journals/crig/

Our patient is a 15-year-old male with a history of autism, developmental delay, and focal epilepsy who underwent genetic testing and was found to have a homozygous frameshift mutation in NSUN2 predicted to cause loss of function. This case emphasizes that epilepsy can be a phenotypic manifestation in patients with MRT5.

Home Page: Genetics in Medicine

https://www.gimjournal.org/

The ACMG Annual Clinical Genetics Meeting is where geneticists gather for the best four days of medical genetics. Medical genetics is experiencing growth and …

Medical Genetics Ethics Case Collection: Discussion …

https://www.mededportal.org/doi/10.15766/mep_2374-8265.10562

As gene testing surges, lawsuits aren't far behind

https://www.science.org/content/article/gene-testing-surges-lawsuits-arent-far-behind

While DNA testing upends the practice of medicine, U.S. laws aren't keeping pace. That's one message from a nearly finished 3-year, $2 million project called …

Undiagnosed Diseases Center to address rare genetic …

https://www.bcm.edu/news/undiagnosed-diseases-center-to-address-rare-genetic-cases

Baylor College of Medicine has formed a new center to evaluate patients with rare genetic conditions. The Undiagnosed Diseases Center (UDC) continues the …

A Case-Based Active Learning Session for Medical …

https://www.mededportal.org/doi/10.15766/mep_2374-8265.11135

Introduction. The application of genetics and genomic medicine to clinical practice has been steadily expanding, owing to rapid advances in the knowledge of the …

Genetics Cases - Clinical Cases - Resources for Faculty

https://libraryguides.neomed.edu/c.php?g=324101&p=2172140

Northeast Ohio Medical University is an Equal Education and Employment Institution ADA Compliance | Title IX. NEOMED Library- 4209 St, OH-44, Rootstown, OH …

GINA: Case Studies - The Jackson Laboratory

https://www.jax.org/education-and-learning/clinical-and-continuing-education/clinical-topics/gina-overview/case-studies-of-gina-in-clinical-settings

GINA: Case Studies. In May 2008, President George W. Bush signed into law the Genetic Information Nondiscrimination Act (GINA). All aspects of the law were in effect as of …

Clinical Case Studies | AACC.org

https://www.aacc.org/science-and-research/clinical-chemistry/clinical-case-studies

Each month, a case and a series of questions can be emailed to interested individuals 4-6 weeks in advance of publication. AACC uses cookies to ensure the best website …

Genetics and Genome Sciences | School of Medicine

https://case.edu/medicine/genetics/

Faculty. Our faculty seek to improve human health both through cutting edge genetics and genomics research and by training the next generation of scientists. Their research …