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Exome Sequencing in 200 Intellectual Disability/Autistic Patients: New Candidates and Atypical Presentations
Intellectual disability (ID) and autism spectrum disorder (ASD) belong to neurodevelopmental disorders and occur in ~1% of the general population. Due to disease heterogeneity, identifying the etiology of ID and ASD remains challenging. Exome sequencing (ES) offers the opportunity to rapidly identif...
Autores principales: | Valentino, Floriana, Bruno, Lucia Pia, Doddato, Gabriella, Giliberti, Annarita, Tita, Rossella, Resciniti, Sara, Fallerini, Chiara, Bruttini, Mirella, Lo Rizzo, Caterina, Mencarelli, Maria Antonietta, Mari, Francesca, Pinto, Anna Maria, Fava, Francesca, Baldassarri, Margherita, Fabbiani, Alessandra, Lamacchia, Vittoria, Benetti, Elisa, Zguro, Kristina, Furini, Simone, Renieri, Alessandra, Ariani, Francesca |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8303733/ https://www.ncbi.nlm.nih.gov/pubmed/34356170 http://dx.doi.org/10.3390/brainsci11070936 |
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