L Kádasi
Publications by Year
Research Areas
Cystic Fibrosis Research Advances, Metabolism and Genetic Disorders, Muscle Physiology and Disorders, Neonatal Respiratory Health Research, Genetic Neurodegenerative Diseases
Most-Cited Works
- → The origin of the major cystic fibrosis mutation (ΔF508) in European populations(1994)343 cited
- → Variation in a Repeat Sequence Determines Whether a Common Variant of the Cystic Fibrosis Transmembrane Conductance Regulator Gene Is Pathogenic or Benign(2004)250 cited
- → Identification of a single ancestral CYP1B1 mutation in Slovak Gypsies (Roms) affected with primary congenital glaucoma(1999)174 cited
- → High Frequency of Alkaptonuria in Slovakia: Evidence for the Appearance of Multiple Mutations in HGO Involving Different Mutational Hot Spots(2000)93 cited
- → Linkage of Autosomal Recessive Primary Congenital Glaucoma to the GLC3A Locus in Roms (Gypsies) from Slovakia(1998)55 cited
- → The S18Y polymorphism in the UCHL1 gene is a genetic modifier in Huntington’s disease(2005)47 cited
- → Identification of three novel SEDL mutations, including mutation in the rare, non‐canonical splice site of exon 4(2003)45 cited
- → Genetic analysis of candidate genes modifying the age-at-onset in Huntington’s disease(2006)41 cited
- → Clustering of mutations in the 5’ tertile of the NF1 gene in Slovakia patients with optic pathway glioma(2013)36 cited
- → High Frequency of Alkaptonuria in Slovakia: Evidence for the Appearance of Multiple Mutations inHGOInvolving Different Mutational Hot Spots(2000)34 cited