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Staff
Francis S. Collins, M.D., Ph.D.
Dr. Francis Collins is a senior investigator in Center for Precision Health Research.
… rhombomere 4 motor neurons and cause dominant hereditary congenital facial paresis . Nat Genet . 2023 Jun 29. doi: …
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Report- Genomic Medicine IX Meeting.pdf
… with high clinical validity–Genes strongly implicated in congenital or undiagnosed diseases–Genes depleted for …
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CRGGH Collaborators Consortia
… Human Genome Research Institute, NIH Projects: Genetics of Congenital Heart Disease in Africa; Genetic Basis of Acquired …
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American College of Medical Genetics and Genomics Report.pdf
… to improve the health outcomes of newborns with genetic or congenital disorders through an infrastructure that allows … exome sequencing for rare and more common conditions with congenital to adult onset. Scheduled from 2:00 - 3:00 pm ET …
Archive
GNE Myopathy Clinical Studies at NIH
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2016 International Summit in Human Genetics and Genomics Meeting Agenda
… Newborn Screening Programs Prevention and Care of Congenital and Genetic Disorders in High Burden Countries: …
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American College of Medical Genetics and Genomics Quarterly Report to Council.pdf
… Evaluation Guidelines for the Etiologic Diagnosis of Congenital Hearing Loss; for the Professional Practice and …
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American College of Medical Genetics and Genomics Report.pdf
… to improve the health outcomes of newborns with genetic or congenital disorders through an infrastructure that allows …
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Clinical Sequencing Exploratory Research Consortium.pdf
… et al., De novo mutations in histone -modifying genes in congenital heart disease. Nature. 2013 Jun 13;498(7453):220 …
File
American College of Medical Genetics and Genomics Report.pdf
… to improve the health outcomes of newborns with genetic or congenital disorders through an infrastructure that allows …