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Single nucleotide polymorphism array analysis in copy number variant detection: assessment of its feasibility in the diagnostic setting
Intellectual disability/developmental delay (ID/DD) is a significant problem in child health affecting 2 to 3% of the population worldwide. While the underlying aetiology of ID/DD in a large proportion (about 50%) of these patients is unknown, 15 to 20% of the internationally reported cases detected...
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| Format: | Thesis |
| Language: | English |
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Division of Human Genetics
2017
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