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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: …
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… The long-held but erroneous a ssumption of never -ending ra pid g rowth in biomedical science has created an …
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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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Dr. Pamela Schwartzberg is a adjunct investigator in NHGRI's Genetic Disease Research Branch.
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Dr. Bailey-Wilson is a scientist emeritus in NHGRI's Division of Intramural Research.
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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
William J. Pavan, Ph.D. is the chief of NHGRI's Genetic Disease Research Branch.
… R, Smith AG, McCallion AS, Fisher DE, Stefansson K, Sturm RA, Steingrimsson E. A polymorphism in IRF4 affects human …
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… Clin Inform. 2016;7(3):817-31. doi: 10.4338/ACI-2016-04-RA-0058. Genome Med 2016;8(1):117. doi: …
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… , NHGRI 9.15 - 10.15 am Newborn Screening Dr. Deb ra Regier , Assistant Professor, Director of Genetic and …