List of works - Benjamin O'Callaghan - Paulina

List of works by Benjamin O'Callaghan

A novel ATP1A2 mutation in a patient with hypokalaemic periodic paralysis and CNS symptoms

scientific article published on 01 December 2018

ANGPTL6 genetic variants are an underlying cause of familial intracranial aneurysms

scientific article published on 26 October 2020

An update on the genetics, clinical presentation, and pathomechanisms of human riboflavin transporter deficiency

scientific article published on 21 February 2019

Brown-Vialetto-Van Laere and Fazio-Londe Syndromes: SLC52A3 mutations with puzzling phenotypes and inheritance

scientific article published on 15 December 2020

The Startle disease mutation, α1S270T, predicts shortening of glycinergic synaptic currents

scientific article published on 23 May 2020

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