Next-generation sequencing for diagnosis of rare diseases in the neonatal intensive care unit

BACKGROUND: Rare diseases often present in the first days and weeks of life and may require complex management in the setting of a neonatal intensive care unit (NICU). Exhaustive consultations and traditional genetic or metabolic investigations are costly and often fail to arrive at a final diagnosi...

Πλήρης περιγραφή

Αποθηκεύτηκε σε:
Λεπτομέρειες βιβλιογραφικής εγγραφής
Τόπος έκδοσης:CMAJ
Κύριοι συγγραφείς: Daoud, Hussein, Luco, Stephanie M., Li, Rui, Bareke, Eric, Beaulieu, Chandree, Jarinova, Olga, Carson, Nancy, Nikkel, Sarah M., Graham, Gail E., Richer, Julie, Armour, Christine, Bulman, Dennis E., Chakraborty, Pranesh, Geraghty, Michael, Lines, Matthew A., Lacaze-Masmonteil, Thierry, Majewski, Jacek, Boycott, Kym M., Dyment, David A.
Μορφή: Artigo
Γλώσσα:Inglês
Έκδοση: Joule Inc. 2016
Θέματα:
Research
Διαθέσιμο Online:https://ncbi.nlm.nih.gov/pmc/articles/PMC4978597/
https://ncbi.nlm.nih.gov/pubmed/27241786
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1503/cmaj.150823
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