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… et al., De novo mutations in histone -modifying genes in congenital heart disease. Nature. 2013 Jun 13;498(7453):220 …
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… to improve the health outcomes of newborns with genetic or congenital disorders through an infrastructure that allows …
Staff
Dr. Mullikin was the former director of the NIH Intramural Sequencing Center (NISC).
… ten Bosch J, Anikster Y, Klein C, Gahl WA, Somech R. A congenital neutrophil defect syndrome associated with …
Research at NHGRI
A list of publications led by or in collaboration with the Center for Research on Genomics and Global Health.
… P, Muenke M, Adeyemo AA . Ambiguous genitalia, giant congenital melanocytic nevus and subpulmonic outlet … SI, Muenke M, Han Z, Kruszka P. Exome Sequencing and Congenital Heart Disease in Sub-Saharan Africa. Circ Genom … M, Adeyemo A , Kruszka P. An electronic atlas of human malformation syndromes in diverse populations. Genet Med …
About NHGRI
A timeline of notable events in the history of the National Human Genome Research Institute.
… geneticists around the world to create the Atlas of Human Malformation Syndromes in Diverse Populations . May 10, 2016: …
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… Much has also been learnt about the genetic mechanisms of congenital malfor- mation and mental retardation. A start has … some of the mono- genic disorders associated with skeletal malformation have been found to result from mutations in … in two WHO reports, Community control of genetic and congenital disorders (WHO, 1997) and Primary health care …