Rapid Whole-Exome Sequencing as a Diagnostic Tool in a Neonatal/Pediatric Intensive Care Unit

Genetic disorders are the leading cause of infant morbidity and mortality. Due to the large number of genetic diseases, molecular and phenotype heterogeneity and often severe course, these diseases remain undiagnosed. In infants with a suspected acute monogenic disease, rapid whole-exome sequencing...

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Detalles Bibliográficos
Autores principales: Śmigiel, Robert, Biela, Mateusz, Szmyd, Krzysztof, Błoch, Michal, Szmida, Elżbieta, Skiba, Paweł, Walczak, Anna, Gasperowicz, Piotr, Kosińska, Joanna, Rydzanicz, Małgorzata, Stawiński, Piotr, Biernacka, Anna, Zielińska, Marzena, Gołębiowski, Waldemar, Jalowska, Agnieszka, Ohia, Grażyna, Głowska, Bożena, Walas, Wojciech, Królak-Olejnik, Barbara, Krajewski, Paweł, Sykut-Cegielska, Jolanta, Sąsiadek, Maria M., Płoski, Rafał
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7408678/
https://www.ncbi.nlm.nih.gov/pubmed/32668698
http://dx.doi.org/10.3390/jcm9072220

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7408678/
https://www.ncbi.nlm.nih.gov/pubmed/32668698
http://dx.doi.org/10.3390/jcm9072220

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