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List of works by Ewa Popowska

A case described as translocation 15;15 revised: maternal 15 UPD, resulting from isochromosome 15, in a PWS patient

scientific article published on 01 April 2005

A comprehensive HADHA c.1528G>C frequency study reveals high prevalence of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency in Poland

scientific article

A homozygous mutation in the SCO2 gene causes a spinal muscular atrophy like presentation with stridor and respiratory insufficiency

scientific article published on 29 October 2009

Anthropometric characteristics of X-linked hypophosphatemia

scientific article published on 01 April 2004

Carrier frequency of mutation 657del5 in the NBS1 gene in a population of Polish pediatric patients with sporadic lymphoid malignancies

scientific article published on 01 March 2006

Clinical heterogeneity and molecular findings in five Polish patients with glycerol kinase deficiency: investigation of two splice site mutations with computerized splice junction analysis and Xp21 gene-specific mRNA analysis.

scientific article

Four novel RSK2 mutations in females with Coffin-Lowry syndrome.

scientific article published on 15 July 2010

Heterozygous germ-line mutations in the NBN gene predispose to medulloblastoma in pediatric patients.

scientific article

High prevalence of SURF1 c.845_846delCT mutation in Polish Leigh patients

scientific article published on 26 June 2008

Molecular studies of Polish patients with respiratory chain complex I deficiency

The frequency of NBN molecular variants in pediatric astrocytic tumors.

scientific article

Twelve novel JAG1 gene mutations in Polish Alagille syndrome patients

scientific article published in March 2005

Xp21.2 contiguous gene syndrome due to deletion involving glycerol kinase and Duchenne muscular dystrophy loci

scientific article published on July 2010

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