L Korniszewski
Institute of Physiology and Pathology of Hearing(PL)
Publications by Year
Research Areas
Genomic variations and chromosomal abnormalities, Chromosomal and Genetic Variations, Prenatal Screening and Diagnostics, Diabetes and associated disorders, Hearing, Cochlea, Tinnitus, Genetics
Most-Cited Works
- → Campomelic Dysplasia Translocation Breakpoints Are Scattered over 1 Mb Proximal to SOX9: Evidence for an Extended Control Region(1999)212 cited
- → M34T and V37I mutations in GJB2 associated hearing impairment: Evidence for pathogenicity and reduced penetrance(2007)104 cited
- → Molecular background of polyendocrinopathy–candidiasis–ectodermal dystrophy syndrome in a Polish population: novel AIRE mutations and an estimate of disease prevalence(2006)77 cited
- → Dominant ELOVL1 mutation causes neurological disorder with ichthyotic keratoderma, spasticity, hypomyelination and dysmorphic features(2018)58 cited
- → Application of array comparative genomic hybridization in 256 patients with developmental delay or intellectual disability(2013)44 cited
- → Wiedemann-Rautenstrauch (neonatal progeroid) syndrome: New case with normal telomere length in skin fibroblasts(2001)35 cited