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Use of ultra-rapid whole-exome sequencing to diagnose congenital central hypoventilation syndrome.
Shivanthan Shanthikumar
Ajay C Kevat
Rachel Stapleton
Sebastian Lunke
Zornitza Stark
Moya Vandeleur
Published in:
Pediatric pulmonology (2020)
Keyphrases
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high resolution
positive airway pressure
case report
loop mediated isothermal amplification
obstructive sleep apnea
mass spectrometry
sleep apnea