List of works - Juha W Koskenvuo - Paulina

List of works by Juha W Koskenvuo

Biallelic loss-of-function in NRAP is a cause of recessive dilated cardiomyopathy

scientific article published on 03 February 2021

Case reports of two pedigrees with recessive arrhythmogenic right ventricular cardiomyopathy associated with homozygous Thr335Ala variant in DSG2.

scientific article published on 17 August 2017

Heterozygous junctophilin-2 (JPH2) p.(Thr161Lys) is a monogenic cause for HCM with heart failure

scientific article published in PLoS ONE

Next-generation sequencing in childhood-onset epilepsies: Diagnostic yield and impact on neuronal ceroid lipofuscinosis type 2 (CLN2) disease diagnosis

scientific article published on 01 September 2021

Scaling resolution of variant classification differences in ClinVar between 41 clinical laboratories through an outlier approach

scientific article published on 01 November 2018

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