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Items where Subject is "R Medicine > RJ Pediatrics"

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Article

Gos, Monika and Fahiminiya, Somayyeh and Poznański, Jarosław and Klapecki, Jakub and Obersztyn, Ewa and Piotrowicz, Małgorzata and Wierzba, Jolanta and Posmyk, Renata and Bal, Jerzy and Majewski, Jacek (2014) Contribution of RIT1 mutations to the pathogenesis of Noonan syndrome: four new cases and further evidence of heterogeneity. American journal of medical genetics. Part A, 164A (9). pp. 2310-2316. ISSN 1552-4833

Hoffman-Zacharska, Dorota and Mierzewska, Hanna and Szczepanik, Elżbieta and Poznański, Jarosław and Mazurczak, Tomasz and Jakubiuk-Tomaszuk, Anna and Mądry, Jacek and Kierdaszuk, Anatol and Bal, Jerzy (2013) The spectrum of PLP1 gene mutations in patients with the classical form of the Pelizaeus-Merzbacher disease. Medycyna Wieku Rozwojowego / Developmental Period Medicine, 17 (4). pp. 293-300. ISSN 1428-345X

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