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Author/Creator Smyk, Marta

1. A de novo 1.58 Mb deletion, including MAP2K6 and mapping 1.28 Mb upstream to SOX9, identified in a patient with Pierre Robin sequence and osteopenia with multiple fractures. (8th June 2015)

Authors:
Smyk, Marta; Roeder, Elizabeth; Cheung, Sau Wai; Szafranski, Przemyslaw; Stankiewicz, Paweł
Journal:
American journal of medical genetics
Issue:
Volume 167:Number 8(2015:Aug.)
Page Start:
1842
Record Type:
Journal Article
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2. A novel IGF2/H19 domain triplication in the 11p15.5 imprinting region causing either Beckwith–Wiedemann or Silver–Russell syndrome in a single family. Issue 1 (9th September 2016)

Authors:
Jurkiewicz, Dorota; Kugaudo, Monika; Skórka, Agata; Śmigiel, Robert; Smyk, Marta; Ciara, Elżbieta; Chrzanowska, Krystyna; Krajewska‐Walasek, Małgorzata
Journal:
American journal of medical genetics
Issue:
Volume 173:Issue 1(2017)
Page Start:
72
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

3. Diverse clinical outcome of Hunter syndrome in patients with chromosomal aberration encompassing entire and partial IDS deletions: what is important for early diagnosis and counseling?. Issue 2 (7th December 2020)

Authors:
Jezela-Stanek, Aleksandra; Pokora, Paulina; Młynek, Marlena; Smyk, Marta; Ziemkiewicz, Kamila; Różdżyńska-Świątkowska, Agnieszka; Tylki-Szymańska, Anna
Journal:
Clinical dysmorphology
Issue:
Volume 30:Issue 2(2021)
Page Start:
76
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗