Jonna Tallila

Espoo, Finland

Last Updated: 09/26/2026

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Found 10 publications

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

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

Journal: Orphanet journal of rare diseases

Published: February 18, 2022

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

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

Journal: Orphanet journal of rare diseases

Published: July 16, 2021

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

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

Journal: BMC cardiovascular disorders

Published: May 24, 2020

Discovery of a new mutation in the desmin gene in a young patient with cardiomyopathy and muscular weakness.

Discovery of a new mutation in the desmin gene in a young patient with cardiomyopathy and muscular weakness.

Journal: Romanian journal of morphology and embryology = Revue roumaine de morphologie et embryologie

Published: May 20, 2017

Cardiovascular magnetic resonance findings in patients with PRKAG2 gene mutations.

Cardiovascular magnetic resonance findings in patients with PRKAG2 gene mutations.

Journal: Journal of cardiovascular magnetic resonance : official journal of the Society for Cardiovascular Magnetic Resonance

Published: August 17, 2015

The rare Costello variant HRAS c.173C>T (p.T58I) with severe neonatal hypertrophic cardiomyopathy.

The rare Costello variant HRAS c.173C>T (p.T58I) with severe neonatal hypertrophic cardiomyopathy.

Journal: American journal of medical genetics. Part A

Published: May 09, 2015

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

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

Journal: European heart journal

Published: February 26, 2015

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

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

Journal: Molecular genetics & genomic medicine

Published: February 04, 2015

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

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

Journal: American journal of medical genetics. Part A

Published: June 19, 2014

Lethal evolution of a newborn with consistent features of hydrolethalus syndrome--Romanian patient.

Lethal evolution of a newborn with consistent features of hydrolethalus syndrome--Romanian patient.

Journal: Genetic counseling (Geneva, Switzerland)

Published: October 28, 2011

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Last Updated: 09/26/2026