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The study collects genetic and medical information from people with GNE myopathy to understand the symptoms and clinical course of GNE myopathy.
… 26 [Updated 2020 Apr 9]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): … M, Doedée R, Lammens M, Huizing M, Padberg GW, Wevers RA, van Engelen BG, Lefeber DJ. Clinical features, lectin …
Staff
Dr. Raman Sood is an associate investigator in the Translational and Functional Genomics Branch and director of the Zebrafish Core at the National Human Genome Research Institute.
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… of Health since 1994, first at the National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS) and …
Staff
Dr. Paul Liu is a senior investigator in NHGRI's Translational and Functional Genomics Branch.
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… Malignancies. 2021 Mar 4. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): …
Staff
Dr. Leslie Biesecker is a clinical and molecular geneticist in and the chief of NHGRI's Center for Precision Health Research.
… Moeschler JB, Moghaddam B, Neri G, Newbury-Ecob R, Pagon RA, Phillips JA, III, Sadler LS, Stoler JM, Tilstra D, Walsh …
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… u i re s i g n i f i c a n t l e v e l s o f h u m a n c u ra t i o n Databases and Knowledgebases Overarching Goal 2: …
File
… The long-held but erroneous a ssumption of never -ending ra pid g rowth in biomedical science has created an …
Staff
Dr. Pamela Schwartzberg is a adjunct investigator in NHGRI's Genetic Disease Research Branch.
Staff
Dr. Michael Erdos is an Associate Investigator in the Molecular Genetics Section of the Center for Precision Health Research.
Staff
Dr. Manoli is a pediatrician, clinical and biochemical geneticist in the Organic Acid Research Section of the Metabolic Medicine Branch at NHGRI.
… Aug 16 [updated 2022 Sep 8]. In: Adam MP, Mirzaa GM, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): …
Staff
Dr. Bailey-Wilson is a scientist emeritus in NHGRI's Division of Intramural Research.