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Article

Large-scale evaluation of outcomes following a genetic diagnosis in children with severe developmental disorders

2023-10-19

Abstract excerpt

<h4>ABSTRACT</h4> <h4>Objective</h4> We sought to evaluate outcomes for clinical management following a genetic diagnosis from the Deciphering Developmental Disorders (DDD) Study. <h4>Design</h4> Individuals in the DDD study who had a pathogenic/likely pathogenic genotype in the DECIPHER database were selected for inclusion (n=5010). Clinical notes from regional clinical genetics services notes were reviewed to...

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Literature Corpus work
7f8e53ce-5240-5b2d-8df9-9c2e0d6359de
DOI
10.1101/2023.10.18.23297202
Open publication

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Large-scale evaluation of outcomes following a genetic diagnosis in children with severe developmental disordersDOI 10.1101/2023.10.18.23297202
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