L Korniszewski

Campomelic Dysplasia Translocation Breakpoints Are Scattered over 1 Mb Proximal to SOX9: Evidence for an Extended Control Region

Dietmar Pfeifer, Ralf Kist, Ken Dewar et al. · The American Journal of Human Genetics · 1999 · 211 citations · Full text

Genome Instability, Developmental Biology, Cell Division +7

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

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

Genetics, Immunodeficiencies, Genetic Epidemiology +19

Dominant <i>ELOVL1</i> mutation causes neurological disorder with ichthyotic keratoderma, spasticity, hypomyelination and dysmorphic features

Anna Kutkowska‐Kaźmierczak, Małgorzata Rydzanicz, Aleksander Chlebowski et al. · Journal of Medical Genetics · 2018 · 57 citations

Application of array comparative genomic hybridization in 256 patients with developmental delay or intellectual disability

Magdalena Bartnik, Beata Nowakowska, Katarzyna Derwińska et al. · Journal of Applied Genetics · 2013 · 44 citations · Full text

Array Cgh, /Intellectual Disability, Genetics +16