Ewelina M Olech

Hyperosmia, ectrodactyly, mild intellectual disability, and other defects in a male patient with an X-linked partial microduplication and overexpression of the KAL1 gene

A. Latos-Bieleńska, Monika Piwecka, A. Jamsheer, 2014, Journal of Applied Genetics.

Variable expressivity of the phenotype in two families with brachydactyly type E, craniofacial dysmorphism, short stature and delayed bone age caused by novel heterozygous mutations in the PTHLH gene

A. Latos-Bieleńska, A. Materna-Kiryluk, A. Pyrkosz, 2016, Journal of Human Genetics.

Novel 1q22-q23.1 duplication in a patient with lambdoid and metopic craniosynostosis, muscular hypotonia, and psychomotor retardation

D. Larysz, A. Jamsheer, Magdalena Socha, 2018, Journal of Applied Genetics.