Agnieszka Pollak

New perspective in diagnostics of mitochondrial disorders: two years’ experience with whole-exome sequencing at a national paediatric centre

Ewa Pronicka, Dorota Piekutowska‐Abramczuk, Elżbieta Ciara et al. · Journal of Translational Medicine · 2016 · 231 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Effect of a constant rate infusion of lidocaine on the quality of recovery from sevoflurane or isoflurane general anaesthesia in horses

Alexander Valverde, Cornelia Gunkel, Thomas J. Doherty et al. · Equine Veterinary Journal · 2005 · 117 citations

Medicine, Anesthesiology, Surgery +17

M34T and V37I mutations in <i>GJB2</i> associated hearing impairment: Evidence for pathogenicity and reduced penetrance

Agnieszka Pollak, Agata Skórka, Małgorzata Mueller‐Malesińska et al. · American Journal of Medical Genetics Part A · 2007 · 104 citations

Life Sciences, Genetics, Molecular Genetics +16

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

Maria Franaszczyk, Przemysław Chmielewski, Grażyna Truszkowska et al. · PLoS ONE · 2017 · 91 citations · Full text

Medicine, Genetics, Molecular Genetics +15

Molecular background of polyendocrinopathy–candidiasis–ectodermal dystrophy syndrome in a Polish population: novel <i>AIRE</i> mutations and an estimate of disease prevalence

Bartosz Stolarski, Ewa Pronicka, L Korniszewski et al. · Clinical Genetics · 2006 · 77 citations

Life Sciences, Genetics, Molecular Genetics +17