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Casper Shyr

Secondary biogenic amine deficiencies: Genetic etiology, therapeutic interventions and clinical effects
Atypical cerebral palsy: genomics analysis enables precision medicine
Gain-of-function KCNJ6 mutation in a severe hyperkinetic movement disorder phenotype
Further validation of the SIGMAR1 c.151+1G>T mutation as cause of distal hereditary motor neuropathy
Exome sequencing and the management of neurometabolic disorders
Cytosolic phosphoenolpyruvate carboxykinase deficiency presenting with acute liver failure following gastroenteritis

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