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Massively Parallel Sequencing of Patients with Intellectual Disability, Congenital Anomalies and/or...

Massively Parallel Sequencing of Patients with Intellectual Disability, Congenital Anomalies and/or...

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_1524420011

Massively Parallel Sequencing of Patients with Intellectual Disability, Congenital Anomalies and/or Autism Spectrum Disorders with a Targeted Gene Panel: e93409

About this item

Full title

Massively Parallel Sequencing of Patients with Intellectual Disability, Congenital Anomalies and/or Autism Spectrum Disorders with a Targeted Gene Panel: e93409

Journal title

PloS one, 2014-04, Vol.9 (4)

Language

English

Formats

More information

Scope and Contents

Contents

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 genetically heterogeneous conditions. We report on ou...

Alternative Titles

Full title

Massively Parallel Sequencing of Patients with Intellectual Disability, Congenital Anomalies and/or Autism Spectrum Disorders with a Targeted Gene Panel: e93409

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_proquest_miscellaneous_1524420011

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_1524420011

Other Identifiers

E-ISSN

1932-6203

DOI

10.1371/journal.pone.0093409

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