Genomic Diagnosis of Rare Pediatric Disease in the United Kingdom and Ireland

BACKGROUND: Pediatric disorders include a range of highly genetically heterogeneous conditions amenable to genome-wide diagnostic approaches. Finding a molecular diagnosis is challenging but can have profound lifelong benefits. METHODS: The Deciphering Developmental Disorders (DDD) study recruited &...

Descripción completa

Guardado en:
Detalles Bibliográficos
Publicado en:N Engl J Med
Autores principales: Wright, Caroline F., Campbell, Patrick, Eberhardt, Ruth Y., Aitken, Stuart, Perrett, Daniel, Brent, Simon, Danecek, Petr, Gardner, Eugene J., Chundru, V. Kartik, Lindsay, Sarah J., Andrews, Katrina, Hampstead, Juliet, Kaplanis, Joanna, Samocha, Kaitlin E., Middleton, Anna, Foreman, Julia, Hobson, Rachel J., Parker, Michael J., Martin, Hilary C., FitzPatrick, David R., Hurles, Matthew E., Firth, Helen V.
Formato: Artigo
Lenguaje:Inglês
Publicado: 2023
Materias:
Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC7614484/
https://ncbi.nlm.nih.gov/pubmed/37043637
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1056/NEJMoa2209046.
Etiquetas: Agregar Etiqueta
Sin Etiquetas, Sea el primero en etiquetar este registro!

Ejemplares similares