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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Publicado no:J Clin Med
Main Authors: 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: Artigo
Idioma:Inglês
Publicado em: MDPI 2020
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7408678/
https://ncbi.nlm.nih.gov/pubmed/32668698
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/jcm9072220
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