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Published in 2022 at "Indian Pediatrics"
DOI: 10.1007/s13312-022-2464-y
Abstract: Genomics is an integral part of many pediatric diseases spanning all sub-specialities. While many genetic disorders are diagnosed with the currently available genomic tests, there still are many patients who do not receive a definitive…
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Keywords:
indian undiagnosed;
diseases program;
undiagnosed diseases;
udp unmet ... See more keywords
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0
Published in 2017 at "Orphanet Journal of Rare Diseases"
DOI: 10.1186/s13023-017-0619-z
Abstract: BackgroundNew approaches are required to address the needs of complex undiagnosed diseases patients. These approaches include clinical genomic diagnostic pipelines, utilizing intra- and multi-disciplinary platforms, as well as specialty-specific genomic clinics. Both are advancing diagnostic…
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Keywords:
public health;
undiagnosed diseases;
health;
diseases program ... See more keywords