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Popowska, E. / Pronicka, E. / Sulek, A. et al. | British Library Online Contents | 2001

Phenotype analysis of Polish patients with mandibulofacial dysostosis type Guion-Almeida associated with esophageal atresia and choanal atresia caused by EFTUD2 gene mutations

Smigiel, R. / Bezniakow, N. / Jakubiak, A. et al. | British Library Online Contents | 2015

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

Identification of mutations in the NF2 gene in Polish patients with neurofibromatosis type 2 - Short communication

Laniewski-Wollk, M. / Gos, M. / Koziarski, A. et al. | British Library Online Contents | 2008