Missed diagnoses: Clinically relevant lessons learned through medical mysteries solved by the Undiagnosed Diseases Network

BACKGROUND: Resources within the Undiagnosed Diseases Network (UDN), such as genome sequencing (GS) and model organisms aid in diagnosis and identification of new disease genes, but are currently difficult to access by clinical providers. While these resources do contribute to diagnoses in many case...

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Detalhes bibliográficos
Publicado no:Mol Genet Genomic Med
Main Authors: Cope, Heidi, Spillmann, Rebecca, Rosenfeld, Jill A., Brokamp, Elly, Signer, Rebecca, Schoch, Kelly, Glanton, Emily, Sullivan, Jennifer A., Macnamara, Ellen, Lincoln, Sharyn, Golden‐Grant, Katie, Orengo, James P., Clark, Gary, Burrage, Lindsay C., Posey, Jennifer E., Punetha, Jaya, Robertson, Amy, Cogan, Joy, Phillips, John A., Martinez‐Agosto, Julian, Shashi, Vandana
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley and Sons Inc. 2020
Assuntos:
Original Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7549585/
https://ncbi.nlm.nih.gov/pubmed/32730690
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.1397
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