A novel <i>IGF2/H19</i> domain triplication in the 11p15.5 imprinting region causing either Beckwith–Wiedemann or Silver–Russell syndrome in a single familyDorota Jurkiewicz, Małgorzata Krajewska‐Walasek, Monika Kugaudo et al.|American Journal of Medical Genetics Part A|2016Cited by 47
Additional data on the clinical phenotype of Helsmoortel—Van der Aa syndrome associated with a novel truncating mutation in <i>ADNP</i> geneMałgorzata Krajewska‐Walasek, Elżbieta Ciara, Dorota Jurkiewicz et al.|American Journal of Medical Genetics Part A|2016Cited by 34
Spectrum of JAG1 gene mutations in Polish patients with Alagille syndromeDorota Jurkiewicz, Małgorzata Krajewska‐Walasek, Dorota Gliwicz et al.|Journal of Applied Genetics|2014Cited by 34
A comprehensive <i>HADHA</i> c.1528G>C frequency study reveals high prevalence of long‐chain 3‐hydroxyacyl‐CoA dehydrogenase deficiency in PolandDorota Piekutowska‐Abramczuk, Ewa Pronicka, Rikke Katrine Jentoft Olsen et al.|Journal of Inherited Metabolic Disease|2010Cited by 31
SLOS carrier frequency in Poland as determined by screening for Trp151X and Val326Leu DHCR7 mutationsElżbieta Ciara, Małgorzata Krajewska‐Walasek, Ewa Popowska et al.|European Journal of Medical Genetics|2006Cited by 30