B. Goryluk‐Kozakiewicz

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

Loss of juxtaposition of RAG-induced immunoglobulin DNA ends is implicated in the precursor B-cell differentiation defect in NBS patients

Mirjam van der Burg, Magdalena A. Berkowska, B. Goryluk‐Kozakiewicz et al. · Blood · 2010 · 40 citations · Full text

Life Sciences, Genetics, Molecular Biology +14

SLOS carrier frequency in Poland as determined by screening for Trp151X and Val326Leu DHCR7 mutations

Elżbieta Ciara, Ewa Popowska, Dorota Piekutowska‐Abramczuk et al. · European Journal of Medical Genetics · 2006 · 29 citations

Life Sciences, Genetics, Molecular Genetics +12

Maternal urinary steroid profiles in prenatal diagnosis of Smith–Lemli–Opitz syndrome: first patient series comparing biochemical and molecular studies

Aleksandra Jezela‐Stanek, EM Małunowicz, Elżbieta Ciara et al. · Clinical Genetics · 2005 · 24 citations

Medicine, Endocrinology, Obstetrics +17