Spectrum of NIPBL gene mutations in Polish patients with Cornelia de Lange syndrome

Kuzniacka, A. / Wierzba, J. / Ratajska, M. et al. | British Library Online Contents | 2013

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

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

APC gene mutations causing familial adenomatous polyposis in Polish patients - Original article

Plawski, A. / Slomski, R. | British Library Online Contents | 2008

X-linked hypophosphatemia in Polish patients. 1. Mutations in the PHEX gene

Popowska, E. / Pronicka, E. / Sulek, A. et al. | British Library Online Contents | 2000