Tadeusz Mazurczak
Publications by Year
Research Areas
Genetics and Neurodevelopmental Disorders, Genomic variations and chromosomal abnormalities, Chromosomal and Genetic Variations, Child and Adolescent Health, Cystic Fibrosis Research Advances
Most-Cited Works
- → High Rate of Mosaicism in Tuberous Sclerosis Complex(1999)200 cited
- → Recurrent Distal 7q11.23 Deletion Including HIP1 and YWHAG Identified in Patients with Intellectual Disabilities, Epilepsy, and Neurobehavioral Problems(2010)97 cited
- → Molecular cytogenetic characterization of eight small supernumerary marker chromosomes originating from chromosomes 2, 4, 8,18, and 21 in three patients(2007)96 cited
- → Paracentric inversion inv(18)(q21.1q23) in a woman with recurrent spontaneous abortions(1990)74 cited
- → Analysis of CFTR, SPINK1, PRSS1 and AAT Mutations in Children With Acute or Chronic Pancreatitis(2006)73 cited
- → Clinical and molecular‐cytogenetic studies in seven patients with ring chromosome 18(2001)60 cited
- → Application of array comparative genomic hybridization in 102 patients with epilepsy and additional neurodevelopmental disorders(2012)56 cited
- → Newborn screening for cystic fibrosis: Polish 4 years’ experience with CFTR sequencing strategy(2012)51 cited
- → Early-onset seizures due to mosaic exonic deletions of CDKL5 in a male and two females(2011)49 cited
- → Novel mutation of IL1RAPL1 gene in a nonspecific X‐linked mental retardation (MRX) family(2008)46 cited