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Genetic Disorders
Severe Combined Immunodeficiency is a severe, genetic condition of the immune system.
… infections (acute otitis media), pneumonia or bronchitis, oral thrush (a type of yeast that multiplies rapidly, …
Staff
Dr. Marjan Huizing is a staff scientist in the Medical Genetics Branch at the National Human Genome Research Institute.
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… leading to severe proteinuria and hematuria. Oral administration of the sialic acid precursor …
Policy Issues
En una decisión histórica en junio de 2013, el Tribunal Supremo determinó que el ADN en su forma natural no puede ser patentado.
The Genomics Landscape
In the July 2018 edition of The Genomics Landscape, NHGRI Director Eric Green highlights the 10th anniversary of the Undiagnosed Diseases Program.
… Notable Accomplishments in Genomic Medicine Videos NHGRI's Oral History Collection: Interview with Jean McEwen Funding …
Professional Development Programs
Meeting a JHU/NHGRI Genetic Counseling Training Program graduate will help you learn more about the program and may help when deciding whether to apply.
… is due to the executive committee in mid-November and oral defenses of our proposals are generally in early …
The Genomics Landscape
In the June 2, 2022 edition of The Genomics Landscape, NHGRI Director, Eric Green, M.D., Ph.D., highlights the new and improved Talking Glossary of Genomic and Genetic Terms - one of the premier educational resources offered by NHGRI, and it aims to help users better understand the basics of genomics and genetics.
… format. Terms are defined in both written and oral formats, including a Spanish translation . To date, the …
The Genomics Landscape
In the September 2019 edition of The Genomics Landscape, NHGRI Director Eric Green details the American Society of Human Genetics' (ASHG) new strategic plan, which aims to get people everywhere to realize the benefits of genomics and genetics research.
… Genomics & Evolution Workshop – August 15-16 NHGRI's Oral History Collection: Interview with Deanna Church …
The Genomics Landscape
In the December 2018 edition of The Genomics Landscape, NHGRI Director Eric Green recaps progress from NHGRI strategic planning process events in 2018.
… the History of Genomics Program's organized archives and oral histories. The published articles cover a range of …
The Genomics Landscape
In the February 2018 edition of The Genomics Landscape, NHGRI Director Eric Green highlights the new director of NHGRI's Division of Genome Sciences.
… Visualization & Engagement Initiative New Videos NHGRI's Oral History Collection: Interview with Michael Gottesman …
Clinical Research
This study evaluates patients with inherited metabolic disorders and related medical complications.
… and salivary methylmalonate in methylmalonic acidemia. Oral Dis , 15(3):196-205. 2009. [ PubMed ] Carrillo-Carrasco …