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… et al. Specific amino acid changes of congenital nephrotic syndrome in Indonesia. 2017 (In preparation). 5. Ariani Y , … AK, Ikolo FA, La Qua S, Shotelersuk V, Uwineza A , et al. Down syndr ome in diverse populations. Am J Med Genet Part A. … M -K, Jones KL , Abdul -Rahman OA , Ekure EN , et al . Down syndrome in diverse populations . Am J Med Genet Part A. …
The Genomics Landscape
In the August 6, 2020 edition of The Genomics Landscape, Dr. Eric Green talks about NHGRI's completion of the third phase of the ENCODE Project and how it reveals the most extensive catalog to date of candidate functional elements that may regulate the genes in the human and mouse genomes.
… Eric Green, M.D., Ph.D. … As the summer heat bears down on the country and the battle against the COVID-19 … on coronavirus disease 2019 (COVID-19) in individuals with Down Syndrome for the INCLUDE Project Notice of requirement for …
Event
On November 1-5, 2023, the National Human Genome Research Institute (NHGRI) will participate in the ASHG Annual Meeting - the world's largest human genetics and genomics meeting and exposition.  The annual meeting provides a forum for the presentation and discussion of cutting-edge science in all areas of human genetics.Â
… disease PB2372 Gustavo Nieto-Alamilla Hermansky-Pudlak Syndrome: Exploring the therapeutic effect of gene therapy … in human cancers PB5151 Molly Behan Hermansky-Pudlak Syndrome: Using AAV vectors to understand the development of …
The Genomics Landscape
In the November 2023 edition of The Genomics Landscape, NHGRI Director Eric Green, celebrates the 30th anniversary of the NHGRI Intramural Research Program as well as announces the launch of a new digital history archive.
… tenure, he reorganized the IRP to consolidate 10 branches down to 7 and established the Metabolic Medicine Branch . He … Director Paul Liu, M.D., Ph.D. , who recently stepped down from that role after 12 years of leadership. Six months … E1 enzyme, X-linked, autoinflammatory and somatic syndrome). In an episode of Symptomatic: A Medical Mystery …
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… • New Lab at NHGRI • Focus on Prenatal Treatment of Down syndrome • Incidental Findings Following Prenatal DNA … 2016; 374:1853-63 Opportunities for Antenatal Treatment of Down Syndrome From: Bianchi DW, Nature Medicine2012; 18: …
News Release
NHGRI researchers have discovered that Mediterranean populations may be more susceptible to an autoinflammatory disease because of evolutionary pressure to survive the bubonic plague.
… an ancient disease. It is the most common periodic fever syndrome, and symptoms of FMF include recurrent fevers, … to fight another may seem counterintuitive. But it comes down to what is the least bad option. The average mortality …
News Release
Clinical applications of genomics in neurology and psychiatry will be the focus of the 2014 lecture series Genomics in Medicine at Suburban Hospital.
The Genomics Landscape
In the October 1, 2020 edition of The Genomics Landscape, Dr. Eric Green reflects on the last 30 years since the launch of the Human Genome Project.
… about investing significant funds into a single top-down managed research effort and others thought the Project … and Rick Kittles about how new findings in genetics tear down old ideas about race, grapple with the unfinished … vaccine candidate begins Study ties COVID-19-related syndrome in kids to altered immune system NIH-supported study …
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… their cells (the XXY variation is called the Klinefelter syndrome ), and many men lose the Y chromosome from their … traced using the Y chromosome because it is only passed down from the father. Many health conditions are thought to … while the X chromosome has about 900 genes. Klinefelter syndrome X Chromosome Y Chromosome … Y Chromosome Fact Sheet …
News Release
Researchers are trying to understand a process whose rules are constantly being written and rewritten by cancer's rogue cells: who will more likely relapse.
… and its symptoms. These words necessarily lead patients down completely different paths. … Why do some patients stay …