Carrier status for 3 most frequent CFTR mutations in Polish PCD/KS patients: lack of association with the primary ciliary dyskinesia phenotype - Original article

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11p13 deletions can be more frequent than the PAX6 gene point mutations in Polish patients with aniridia

Wawrocka, A. / Sikora, A. / Kuszel, L. et al. | British Library Online Contents | 2013

Practical — but mysterious — behaviour of the most frequent values

Steiner, F. / Hajagos, B. | Online Contents | 2001

SURF1 gene mutations in Polish patients with COX-deficient Leigh syndrome

Piekutowska-Abramczuk, D. / Popowska, E. / Pronicka, E. et al. | British Library Online Contents | 2001

Spectrum of JAG1 gene mutations in Polish patients with Alagille syndrome

Jurkiewicz, D. / Gliwicz, D. / Ciara, E. b. et al. | British Library Online Contents | 2014