Search Results
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… 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 …
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… Evaluation Guidelines for the Etiologic Diagnosis of Congenital Hearing Loss; for the Professional Practice and …
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… Newborn Screening Programs Prevention and Care of Congenital and Genetic Disorders in High Burden Countries: …
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… to improve the health outcomes of newborns with genetic or congenital disorders through an infrastructure that allows …
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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 … D, Muenke M, Kruszka P, Beaton A, Sable C, Adeyemo A . Congenital heart disease in school children in Lagos, …
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… Much has also been learnt about the genetic mechanisms of congenital malfor- mation and mental retardation. A start has … in two WHO reports, Community control of genetic and congenital disorders (WHO, 1997) and Primary health care approaches for prevention and control of congenital and genetic disorders (WHO, 2000). The principle …