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Next-generation sequencing for diagnosis of rare diseases in the neonatal intensive care unit.
CMAJ. 2016 Aug 9;188(11):E254-E260. doi: 10.1503/cmaj.150823. Epub 2016 May 30.
CMAJ. 2016.
PMID: 27241786
Free PMC article.
The diagnoses were renal tubular dysgenesis, SCN1A-related encephalopathy syndrome, myotubular myopathy, FTO deficiency syndrome, cranioectodermal dysplasia, congenital myasthenic syndrome, autosomal dominant intellectual disability syndrome …
The diagnoses were renal tubular dysgenesis, SCN1A-related encephalopathy syndrome, myotubular myopathy, FTO deficiency syndrome …
Respiratory management of congenital myasthenic syndromes in childhood: Workshop 8th December 2009, UCL Institute of Neurology, London, UK.
Robb SA, Muntoni F, Simonds AK.
Robb SA, et al.
Neuromuscul Disord. 2010 Dec;20(12):833-8. doi: 10.1016/j.nmd.2010.08.002. Epub 2010 Sep 17.
Neuromuscul Disord. 2010.
PMID: 20850318
No abstract available.
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