Items where Author is "Bal, Jerzy"

Sawicka, J. and Kutkowska-Kaźmierczak, A. and Woźniak, Krzysztof and Tysarowski, A. and Osipowicz, K. and Poznański, Jarosław and Rygiel, A. M. and Braun-Walicka, N. and Niepokój, K. and Bal, Jerzy and Kowalewski, C. and Wertheim-Tysarowska, K. (2020) Novel and recurrent variants of ATP2C1 identified in patients with Hailey-Hailey disease. Journal of Applied Genetics, 61 (2). pp. 187-193. ISSN 1234-1983

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

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

Hoffman-Zacharska, Dorota and Koziorowski, Dariusz and Ross, Owen A and Milewski, Michał and Poznański, Jarosław and Jurek, Marta and Wszolek, Zbigniew K and Soto-Ortolaza, Alexandra and Sławek, Jarosław and Janik, Piotr and Jamrozik, Zygmunt and Potulska-Chromik, Anna and Jasińska-Myga, Barbara and Opala, Grzegorz and Krygowska-Wajs, Anna and Czyżewski, Krzysztof and Dickson, Dennis W and Bal, Jerzy and Friedman, Andrzej (2013) Novel A18T and pA29S substitutions in α-synuclein may be associated with sporadic Parkinson's disease. Parkinsonism & related disorders, 19 (11). pp. 1057-60. ISSN 1873-5126

Hoffman-Zacharska, Dorota and Kmieć, Tomasz and Poznański, Jarosław and Jurek, Marta and Bal, Jerzy (2013) Mutations in the PLP1 gene residue p. Gly198 as the molecular basis of Pelizeaus-Merzbacher phenotype. Brain & development, 35 (9). pp. 877-880. ISSN 1872-7131

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

Czerska, Kamila and Sobczynska-Tomaszewska, A and Sands, Dorota and Nowakowska, A and Bak, D and Wertheim, K and Poznański, Jarosław and Zielenski, J and Norek, A and Bal, Jerzy (2010) Prostaglandin-endoperoxide synthase genes COX1 and COX2 - novel modifiers of disease severity in cystic fibrosis patients. Journal of applied genetics, 51 (3). pp. 323-30. ISSN 2190-3883