Massively Parallel Sequencing of Patients with Intellectual Disability, Congenital Anomalies and/or Autism Spectrum Disorders with a Targeted Gene Panel

Developmental delay and/or intellectual disability (DD/ID) affects 1–3% of all children. At least half of these are thought to have a genetic etiology. Recent studies have shown that massively parallel sequencing (MPS) using a targeted gene panel is particularly suited for diagnostic testing for gen...

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Hlavní autoři: Brett, Maggie, McPherson, John, Zang, Zhi Jiang, Lai, Angeline, Tan, Ee-Shien, Ng, Ivy, Ong, Lai-Choo, Cham, Breana, Tan, Patrick, Rozen, Steve, Tan, Ene-Choo
Médium: Artigo
Jazyk:Inglês
Vydáno: Public Library of Science 2014
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Research Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3972136/
https://ncbi.nlm.nih.gov/pubmed/24690944
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0093409
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