منابع مشابه
Newborn screening: the genomic challenge
We have just celebrated the 50th anniversary of mandatory newborn screening (NBS). Beyond any question, NBS has been a huge success. It has virtually eliminated the tragedy of intellectual disability from phenylketonuria (PKU) and congenital hypothyroidism in the developed world. It has eliminated death or profound neurologic sequelae from neonatal sepsis in galactosemia and in salt-wasting con...
متن کاملNewborn Screening in the Genomic Era: Setting a Research Agenda
On December 13–14, 2010, the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), the National Human Genome Research Institute (NHGRI), and the NIH Office of Rare Diseases Research (ORDR) sponsored a workshop, Newborn Screening in the Genomic Era: Setting a Research Agenda. The purpose of the meeting was to identify elements of a trans-NIH research agenda tha...
متن کاملNewborn Screening in the Genomic Era: Setting a Research Agenda
Introduction On December 13-14, 2010, the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), the National Human Genome Research Institute (NHGRI), and the NIH Office of Rare Diseases Research sponsored a workshop, Newborn Screening in the Genomic Era: Setting a Research Agenda. The purpose of the meeting was to identify elements of a trans-NIH research agen...
متن کاملNewborn Screening in the Genomic Era: Setting a Research Agenda
On December 13–14, 2010, the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), the National Human Genome Research Institute (NHGRI), and the NIH Office of Rare Diseases Research (ORDR) sponsored a workshop, Newborn Screening in the Genomic Era: Setting a Research Agenda. The purpose of the meeting was to identify elements of a trans-NIH research agenda tha...
متن کاملA Universal Newborn Hearing Screening in Iran
Objectives: In September 2002 University of Social Welfare & Rehabilitation Sciences established a pilot universal newborn hearing screening program in two crowded maternity hospital in Tehran. Our objective was to assess the feasibility of implementing universal newborn hearing screening in IRAN. Methods: Between September 2002 and March 2004 a total of 7718 newborns were screened for heari...
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ژورنال
عنوان ژورنال: Molecular Genetics & Genomic Medicine
سال: 2014
ISSN: 2324-9269,2324-9269
DOI: 10.1002/mgg3.74