Pathogenic Copy Number Variations Involved in the Genetic Etiology of Syndromic and Non-Syndromic Intellectual Disability—Data from a Romanian Cohort

The investigation of unexplained global developmental delay (GDD)/intellectual disability (ID) is challenging. In low resource settings, patients may not follow a standardized diagnostic process that makes use of the benefits of advanced technologies. Our study aims to explore the contribution of ch...

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Detalles Bibliográficos
Autores principales: Streață, Ioana, Caramizaru, Alexandru, Riza, Anca-Lelia, Șerban-Sosoi, Simona, Pîrvu, Andrei, Cara, Monica-Laura, Cucu, Mihai-Gabriel, Dobrescu, Amelia Mihaela, Shelby, Elena-Silvia, Albeanu, Adriana, Burada, Florin, Ioana, Mihai
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9777762/
https://www.ncbi.nlm.nih.gov/pubmed/36553144
http://dx.doi.org/10.3390/diagnostics12123137

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