Grażyna Kostrzewa

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

Coexisting Polymorphisms of P2Y12 and CYP2C19 Genes as a Risk Factor for Persistent Platelet Activation With Clopidogrel

Bartłomiej Kisiel, Mateusz Śpiewak, Marcin Grabowski et al. · Circulation Journal · 2008 · 95 citations · Full text

Medicine, Cardiology, Pharmacology +17

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

Filaggrin Gene Defects Are Independent Risk Factors for Atopic Asthma in a Polish Population: A Study in ECAP Cohort

Joanna Ponińska, Bolesław Samoliński, Aneta Tomaszewska et al. · PLoS ONE · 2011 · 57 citations · Full text

Life Sciences, Dermatology, Genetics +16

Novel calcineurin A (PPP3CA) variant associated with epilepsy, constitutive enzyme activation and downregulation of protein expression

Małgorzata Rydzanicz, Małgorzata Wachowska, Erik C. Cook et al. · European Journal of Human Genetics · 2018 · 43 citations

Life Sciences, Molecular Genetics, Neuroscience +10