Oculocutaneous albinism in a patient with 17p13.2-pter duplication - a review on the molecular syndromology of 17p13 duplication

by Marzena Kucharczyk, Aleksandra Jezela-Stanek, Dorota Gieruszczak-Bialek, Monika Kugaudo, Agata Cieslikowska, Magdalena Pelc, Malgorzata Krajewska-Walasek
Published 2015-06-01

DNA Oxidative Cleavage Induced by the Novel Peptide Derivatives of 3-(quinoxalin-6-yl)alanine in Combination with Cu(II) or Fe(II) Ions

by Wojciech Szczepanik, Marzena Kucharczyk-Klamińska, Piotr Stefanowicz, Anna Staszewska, Zbigniew Szewczuk, Jacek Skała, Andrzej Mysiak, Małgorzata Jeżowska-Bojczuk
Published 2009-01-01

The phenotype‐driven computational analysis yields clinical diagnosis for patients with atypical manifestations of known intellectual disability syndromes

by Aleksandra Jezela‐Stanek, Elżbieta Ciara, Dorota Jurkiewicz, Marzena Kucharczyk, Maria Jędrzejowska, Krystyna H. Chrzanowska, Małgorzata Krajewska‐Walasek, Tomasz Żemojtel
Published 2020-09-01

Malan syndrome (Sotos syndrome 2) in two patients with 19p13.2 deletion encompassing NFIX gene and novel NFIX sequence variant

by Aleksandra Jezela-Stanek, Marzena Kucharczyk, Katarzyna Falana, Dorota Jurkiewicz, Marlena Mlynek, Dorota Wicher, Malgorzata Rydzanicz, Monika Kugaudo, Agata Cieslikowska, Elzbieta Ciara, Rafal Ploski, Malgorzata Krajewska-Walasek
Published 2016-03-01

Breakpoint Mapping of Symptomatic Balanced Translocations Links the <i>EPHA6</i>, <i>KLF13</i> and <i>UBR3</i> Genes to Novel Disease Phenotype

by Victor Murcia Pienkowski, Marzena Kucharczyk, Małgorzata Rydzanicz, Barbara Poszewiecka, Katarzyna Pachota, Marlena Młynek, Piotr Stawiński, Agnieszka Pollak, Joanna Kosińska, Katarzyna Wojciechowska, Monika Lejman, Agata Cieślikowska, Dorota Wicher, Agnieszka Stembalska, Karolina Matuszewska, Anna Materna-Kiryluk, Anna Gambin, Krystyna Chrzanowska, Małgorzata Krajewska-Walasek, Rafał Płoski
Published 2020-04-01