Search Results

Facet (Page)

Refine Your Search
Audiences
Content Formats
Sections
Divisions
1 - 2 of 2
The Genomics Landscape
CSER consortium ends after twelve years of groundbreaking research
In the October 2023 edition of The Genomics Landscape, NHGRI Director Eric Green, reflects on the twelve years of groundbreaking research by the Clinical Sequencing Evidence-generating Research (CSER) consortium.
… lysosomal transmembrane protein whose mutation results in Niemann-Pick disease, type C1. A scientific symposium was held at …
News Release
NHGRI researchers to present talks, posters at ASHG annual meeting
NHGRI researchers will present four platform talks and 55 posters to highlight the institute's diverse portfolio at the 65th annual meeting of ASHG.
… 2334F. Katherine Chao: Novel NPC variants causing severe Niemann Pick C deficiency. (Metabolic Disorders) Other Sessions …