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

Life Sciences, Genetics, Molecular Genetics +11

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

Life Sciences, Genetics, Nutritional Sciences +17

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 · 53 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

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

Dorota Piekutowska‐Abramczuk, Martin Magner, Ewa Popowska et al. · Clinical Genetics · 2009 · 40 citations

Life Sciences, Genetics, Molecular Genetics +17

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 · 36 citations

Life Sciences, Genetics, Oncology +15