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Publications by Agnieszka Pollak

NDUFB8 Mutations Cause Mitochondrial Complex I Deficiency in Individuals With Leigh-Like Encephalomyopathy

American Journal of Human Genetics

English

New Perspective in Diagnostics of Mitochondrial Disorders: Two Years’ Experience With Whole-Exome Sequencing at a National Paediatric Centre

Journal of Translational Medicine

Molecular Biology

English

Titin Truncating Variants in Dilated Cardiomyopathy – Prevalence and Genotype-Phenotype Correlations

Multidisciplinary

English

AP4B1-associated Hereditary Spastic Paraplegia: Expansion of Phenotypic Spectrum Related to Homozygous p.Thr387fs Variant

Journal of Applied Genetics

English

Genetic Basis of Hearing Loss

English

Phenotypic Variability of Patients Homozygous for the GJB2 Mutation 35delG Cannot Be Explained by the Influence of One Major Modifier Gene

European Journal of Human Genetics

English