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1.
Expanding the spectrum of phenotypes associated with germline PIGA mutations: a child with developmental delay, accelerated linear growth, facial dysmorphisms, elevated alkaline phosphatase, and progressive CNS abnormalities.
Am J Med Genet A
; 164A(1): 29-35, 2014 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-24259184
2.
Remarkable Phenytoin Sensitivity in 4 Children with SCN8A-related Epilepsy: A Molecular Neuropharmacological Approach.
Neurotherapeutics
; 13(1): 192-7, 2016 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-26252990
3.
Characterization of a de novo SCN8A mutation in a patient with epileptic encephalopathy.
Epilepsy Res
; 108(9): 1511-8, 2014 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-25239001
4.
Erratum to: Remarkable Phenytoin Sensitivity in 4 Children with SCN8A-related Epilepsy: A Molecular Neuropharmacological Approach.
Neurotherapeutics
; 13(1): 238, 2016 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-26297079
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