IBB PAS Repository

Items where Author is "Obersztyn, Ewa"

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Number of items: 4.

Article

Charzewska, Agnieszka and Maiwald, R. and Kahrizi, K. and Oehl-Jaschkowitz, B. and Dufke, A. and Lemke, J.R. and Enders, H. and Najmabadi, H. and Tzschach, A. and Hachmann, W. and Jensen, C. and Bienek, M. and Poznański, Jarosław and Nawara, Magdalena and Chilarska, T. and Obersztyn, Ewa and Hoffman-Zacharska, Dorota and Gos, Monika and Bal, Jerzy and Kalscheuer, V.M. (2018) The power of the Mediator complex-Expanding the genetic architecture and phenotypic spectrum of MED12 -related disorders. Clinical Genetics, 94 (5). pp. 450-456. ISSN 00099163

Charzewska, Agnieszka and Obersztyn, Ewa and Hoffman-Zacharska, Dorota and Lenart, Jacek and Poznański, Jarosław and Bal, Jerzy (2015) Novel Mutations in the IRF6 Gene on the Background of Known Polymorphisms in Polish Patients With Orofacial Clefting. The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association, 52 (5). e161-7. ISSN 1545-1569

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

Charzewska, Agnieszka and Nawara, Magdalena and Jakubiuk-Tomaszuk, Anna and Obersztyn, Ewa and Hoffman-Zacharska, Dorota and Elert, Ewelina and Jurek, Marta and Bartnik, Magdalena and Poznański, Jarosław and Bal, Jerzy (2013) Expanding the phenotype associated with missense mutations of the ARX gene. American journal of medical genetics. Part A, 161A (7). pp. 1813-6. ISSN 1552-4833

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