Ewa Popowska

A gene (PEX) with homologies to endopeptidases is mutated in patients with X–linked hypophosphatemic rickets

Fiona Francis, Steffen Hennig, Bernd Korn et al. · Nature Genetics · 1995 · 1.1K citations

Genetic Disorder, Genetics, X–linked Hypophosphatemic Rickets +3

Linkage disequilibrium analysis in young populations: pseudo-vitamin D-deficiency rickets and the founder effect in French Canadians.

Damian Labuda, Maria Korab-Laskowska, David E.C. Cole et al. · PubMed · 1996 · 143 citations

Carrier frequency of mutation 657del5 in the <i>NBS1</i> gene in a population of polish pediatric patients with sporadic lymphoid malignancies

Krystyńa Chrzańowska, Dorota Piekutowska‐Abramczuk, Ewa Popowska et al. · International Journal of Cancer · 2005 · 54 citations · Full text

Mutation 657Del5, Mixed-phenotype Acute Leukemia, Immunodeficiencies +16

<i>SURF1</i> missense mutations promote a mild Leigh phenotype

Dorota Piekutowska‐Abramczuk, Martin Magner, Ewa Popowska et al. · Clinical Genetics · 2009 · 39 citations

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

Elżbieta Ciara, Dorota Piekutowska‐Abramczuk, Ewa Popowska et al. · Acta Neuropathologica · 2009 · 35 citations

Neuro-oncology, Somatic Variant, Mendelian Disorder +13