Terkko Navigator / Koskenvuo, J(uha)

A novel desmoplakin mutation causes dilated cardiomyopathy with palmoplantar keratoderma as an early clinical sign

Correction to: Diagnostic utility of next-generation sequencing-based panel testing in 543 patients with suspected skeletal dysplasia

Monogenic gene variants in lung transplant recipients with usual interstitial pneumonia

Prevalence of RPGR-Mediated Retinal Dystrophy in an Unselected Cohort of Over 5000 Patients

GRINL1A Complex Transcription Unit Containing GCOM1, MYZAP, and POLR2M Genes Associates with Fully Penetrant Recessive Dilated Cardiomyopathy

SPG6 (NIPA1 variant): A report of a case with early-onset complex hereditary spastic paraplegia and brief literature review

Diagnostic utility of next-generation sequencing-based panel testing in 543 patients with suspected skeletal dysplasia

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

Pharmacological Treatment of Severe Breathing Abnormalities in a Case of <em>HNRNPU</em> Epileptic Encephalopathy

Diagnostic yield of genetic testing in a heterogeneous cohort of 1376 HCM patients

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

Rare Variants in Genes Associated With Cardiomyopathy Are Not Common in Hypoplastic Left Heart Syndrome Patients With Myocardial Dysfunction

Publisher Correction: Relevance of Titin Missense and Non-Frameshifting Insertions/Deletions Variants in Dilated Cardiomyopathy

Paroxysmal movement disorder with response to carbamazepine in a patient with RHOBTB2 developmental and epileptic encephalopathy

ESC EORP Cardiomyopathy Registry: real-life practice of genetic counselling and testing in adult cardiomyopathy patients

A Novel De Novo KIF21A Variant in a Patient With Congenital Fibrosis of the Extraocular Muscles With a Syndromic CFEOM Phenotype

DSP p.(Thr2104Glnfs*12) variant presents variably with early onset severe arrhythmias and left ventricular cardiomyopathy

Association of Intracranial Aneurysms With Aortic Aneurysms in 125 Patients With Fusiform and 4253 Patients With Saccular Intracranial Aneurysms and Their Family Members and Population Controls

Relevance of Titin Missense and Non-Frameshifting Insertions/Deletions Variants in Dilated Cardiomyopathy

Prolonged survival in a patient with a novel pyrroline-5-carboxylase reductase 2 genetic variant

Genetic Basis of Severe Childhood-Onset Cardiomyopathies

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

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

Pegylated and liposomal doxorubicin is associated with high mortality and causes limited cardiotoxicity in mice

Systemic Hypoxia Increases Circulating Concentration of Apelin in Humans

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

Clinical disease presentation and ECG characteristics of <em>LMNA</em> mutation carriers

Intramyocardial injection of SERCA2a-expressing lentivirus improves myocardial function in doxorubicin-induced heart failure

Systemic Dosing of Thymosin Beta 4 before and after Ischemia Does Not Attenuate Global Myocardial Ischemia-Reperfusion Injury in Pigs

Executive summary. Expert consensus statement on the diagnosis and treatment of paediatric pulmonary hypertension. The European Paediatric Pulmonary Vascular Disease Network, endorsed by ISHLT and DGPK

Genetic testing and blood biomarkers in paediatric pulmonary hypertension. Expert consensus statement on the diagnosis and treatment of paediatric pulmonary hypertension. The European Paediatric Pulmonary Vascular Disease Network, endorsed by ISHLT a

Extracellular ATP protects endothelial cells against DNA damage

Relevance of truncating titin mutations in dilated cardiomyopathy

Loss of PPARγ in endothelial cells leads to impaired angiogenesis

Prevalence of Titin Truncating Variants in General Population

Accurate genetic diagnosis of Finnish pulmonary arterial hypertension patients using oligonucleotide-selective sequencing

Reference Values for Echocardiography in Middle-Aged Population: The Cardiovascular Risk in Young Finns Study

Genetics and genotype-phenotype correlations in Finnish patients with dilated cardiomyopathy

No cardiomyopathy in X-linked myopathy with excessive autophagy

Suppression of endothelial CD39/ENTPD1 is associated with pulmonary vascular remodeling in pulmonary arterial hypertension

Expanding the phenotype of Timothy syndrome type 2: an adolescent with ventricular fibrillation but normal development

Circulating N-terminal brain natriuretic peptide and cardiac function in response to acute systemic hypoxia in healthy humans

Loss of bone morphogenetic protein receptor 2 is associated with abnormal DNA repair in pulmonary arterial hypertension

Novel high-throughput sequencing strategies in genetic diagnostics

Intracardiac injection of a capsid-modified Ad5/35 results in decreased heart toxicity when compared to standard Ad5

Therapeutic potential of thymosinβ4 in myocardial infarct and heart failure

Pravastatin-induced improvement in coronary reactivity and circulating ATP and ADP levels in young adults with type 1 diabetes

Fractionation of mouse bone-marrow cells limits functional efficacy in non-reperfused mouse model of acute myocardial infarction

Cardiac Function, Perfusion, Metabolism, and Innervation following Autologous Stem Cell Therapy for Acute ST-Elevation Myocardial Infarction. A FINCELL-INSIGHT Sub-Study with PET and MRI

Intracoronary Levosimendan during Ischemia Prevents Myocardial Apoptosis