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	1.	Oculocutaneous albinism in a patient with 17p13.2-pter duplication - a review on the molecular syndromology of 17p13 duplication. [electronic resource] by Kucharczyk, Marzena Jezela-Stanek, Aleksandra Gieruszczak-Bialek, Dorota Kugaudo, Monika Cieslikowska, Agata Pelc, Magdalena Krajewska-Walasek, Malgorzata Producer: 20161213 In: Biomedical papers of the Medical Faculty of the University Palacky, Olomouc, Czechoslovakia vol. 159 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2.	11p15 duplication and 13q34 deletion with Beckwith-Wiedemann syndrome and factor VII deficiency. [electronic resource] by Jurkiewicz, Dorota Kugaudo, Monika Tańska, Anna Wawrzkiewicz-Witkowska, Angelika Tomaszewska, Agnieszka Kucharczyk, Marzena Cieślikowska, Agata Ciara, Elżbieta Krajewska-Walasek, Małgorzata Producer: 20161213 In: Pediatrics international : official journal of the Japan Pediatric Society vol. 57 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3.	Novel pathogenic variant in the HRAS gene with lethal outcome and a broad phenotypic spectrum among Polish patients with Costello syndrome. [electronic resource] by Pelc, Magdalena Ciara, Elżbieta Jezela-Stanek, Aleksandra Kugaudo, Monika Cieślikowska, Agata Jurkiewicz, Dorota Janeczko, Magdalena Chrzanowska, Krystyna Krajewska-Walasek, Małgorzata Skórka, Agata Producer: 20170315 In: Clinical dysmorphology vol. 26 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4.	Malan syndrome (Sotos syndrome 2) in two patients with 19p13.2 deletion encompassing NFIX gene and novel NFIX sequence variant. [electronic resource] by Jezela-Stanek, Aleksandra Kucharczyk, Marzena Falana, Katarzyna Jurkiewicz, Dorota Mlynek, Marlena Wicher, Dorota Rydzanicz, Malgorzata Kugaudo, Monika Cieslikowska, Agata Ciara, Elzbieta Ploski, Rafal Krajewska-Walasek, Malgorzata Producer: 20170131 In: Biomedical papers of the Medical Faculty of the University Palacky, Olomouc, Czechoslovakia vol. 160 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5.	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 BRAF1 gene. [electronic resource] by Ciara, Elżbieta Pelc, Magdalena Jurkiewicz, Dorota Kugaudo, Monika Gieruszczak-Białek, Dorota Skórka, Agata Posmyk, Renata Jakubiuk-Tomaszuk, Anna Cieślikowska, Agata Chrzanowska, Krystyna H Jezela-Stanek, Aleksandra Krajewska-Walasek, Małgorzata Producer: 20150904 In: European journal of medical genetics vol. 58 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	6.	Breakpoint Mapping of Symptomatic Balanced Translocations Links the [electronic resource] by Murcia Pienkowski, Victor Kucharczyk, Marzena Rydzanicz, Małgorzata Poszewiecka, Barbara Pachota, Katarzyna Młynek, Marlena Stawiński, Piotr Pollak, Agnieszka Kosińska, Joanna Wojciechowska, Katarzyna Lejman, Monika Cieślikowska, Agata Wicher, Dorota Stembalska, Agnieszka Matuszewska, Karolina Materna-Kiryluk, Anna Gambin, Anna Chrzanowska, Krystyna Krajewska-Walasek, Małgorzata Płoski, Rafał Publication details: Journal of clinical medicine Apr 2020 In: Journal of clinical medicine vol. 9 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)