Associated Papers
Utility of Whole Exome Sequencing for Genetic Diagnosis of Previously Undiagnosed Pediatric Neurology Patients.
Kuperberg M et al.
Journal of Child Neurology, 2016
27572814 (PubMed )
Supplement: kuperberg_supp.pdf
Paroxysmal tonic upward gaze as a presentation of de-novo mutations in CACNA1A.
Blumkin L et al.
European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2015
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