E. Rutkiewicz

发表

Polymorphisms within the prion (PrP) and prion-like protein (Doppel) genes in AD

M. Barcikowska, B. Pepłońska, P. Liberski, 2004, Neurology.

CFAP300: Mutations in Slavic Primary Ciliary Dyskinesia Patients and a Role in Ciliary Dynein Arms Trafficking.

E. Ziętkiewicz, P. Daca-Roszak, M. Witt, 2019, American journal of respiratory cell and molecular biology.

Carrier status for 3 most frequentCFTR mutations in Polish PCD/KS patients: lack of association with the primary ciliary dyskinesia phenotype

E. Ziętkiewicz, M. Witt, A. Pogorzelski, 2010, Journal of Applied Genetics.

CFTR Mutations Spectrum and the Efficiency of Molecular Diagnostics in Polish Cystic Fibrosis Patients

E. Ziętkiewicz, M. Witt, A. Pogorzelski, 2014, PloS one.

Partial CFTR genotyping and characterisation of cystic fibrosis patients with myocardial fibrosis and necrosis

M. Witt, B. Skuza, J. Pawlik, 2000, Clinical genetics.

Mutations in Radial Spoke Head Genes and Ultrastructural Cilia Defects in East-European Cohort of Primary Ciliary Dyskinesia Patients

E. Ziętkiewicz, M. Witt, A. Pogorzelski, 2012, PloS one.

Population specificity of the DNAI1 gene mutation spectrum in primary ciliary dyskinesia (PCD)

E. Ziętkiewicz, M. Witt, Zuzanna Bukowy, 2010, Respiratory research.

Exclusion of chromosome 7 for Kartagener syndrome but suggestion of linkage in families with other forms of primary ciliary dyskinesia.

M. Witt, S. Diehl, S. Wang, 1999, American journal of human genetics.

RPGR mutations might cause reduced orientation of respiratory cilia

E. Haan, H. Omran, W. Berger, 2013, Pediatric pulmonology.

A cystic fibrosis patient homozygous for 621 + 1G→T mutation has a severe pulmonary disease, mild pancreatic insufficiency and a gastro‐esophageal reflux

M. Witt, A. Pogorzelski, J. Zebrak, 1996, Clinical genetics.

Analysis of exocrine pancreatic function in cystic fibrosis: one mild CFTR mutation does not exclude pancreatic insufficiency

M. Witt, J. Walkowiak, D. Sands, 2001, European journal of clinical investigation.

Effect of genotype on selected clinical features of Polish cystic fibrosis adults.

M. Witt, A. Nowicka, L. Majka, 2001, Journal of applied genetics.