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
Phenotype expansion and development in Kosaki overgrowth syndromePaweł Gawliński, Małgorzata Krajewska‐Walasek, Magdalena Pelc et al.|Clinical Genetics|2017Cited by 28
Cryptic X; Autosome Translocation in a Boy—Delineation of the PhenotypeAleksandra Jezela‐Stanek, Małgorzata Krajewska‐Walasek, Elżbieta Ciara et al.|Pediatric Neurology|2011Cited by 12
Is diagnosing cardio-facio-cutaneous (CFC) syndrome still a challenge? Delineation of the phenotype in 15 Polish patients with proven mutations, including novel mutations in the BRAF geneElżbieta Ciara, Małgorzata Krajewska‐Walasek, Magdalena Pelc et al.|European Journal of Medical Genetics|2014Cited by 12
Rare clinical findings in three sporadic cases of Beckwith-Wiedemann syndrome due to novel mutations in the CDKN1C geneDorota Jurkiewicz, Małgorzata Krajewska‐Walasek, Agata Skórka et al.|Clinical Dysmorphology|2019Cited by 8