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Genomic Testing in Adults with Undiagnosed Rare Conditions: Improvement of Diagnosis Using Clinical Exome Sequencing As a First-Tier Approach.

Roberta Petillo,Ilaria De Maggio,Carmelo Piscopo,Massimiliano Chetta,Marina Tarsitano,Luigi Chiriatti, Elvira Sannino, Serena Torre,Marcella D'Antonio,Paola D'Ambrosio, Marco Rambaldi, Maria Cioce, Valentina De Stefano, Maria Rita Parisi, Antonella Telese,Maria Oro,Maria Rivieccio,Francesca Clementina Radio,Cecilia Mancini,Marcello Niceta,Viviana Cordeddu,Alessandro Bruselles,Corrado Mammi, Adele Dattola,Tiziana Fioretti,Gabriella Esposito,Antonio Novelli,Alessandro Tessitore,Alessandra Tessa,Filippo Maria Santorelli,Achille Iolascon,Matteo Della Monica,Marco Tartaglia,Manuela Priolo

CLINICAL GENETICS（2025）

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关键词
adults,CES,CMA,diagnostic odyssey,diagnostic yield,HPO,syndromic ID,WES
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