Items where Subject is "R Medicine > RJ Pediatrics > RJ101 Child Health. Child health services"

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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

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

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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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Lukasik, Anna and Zielenkiewicz, Piotr (2014) In Silico Identification of Plant miRNAs in Mammalian Breast Milk Exosomes – A Small Step Forward? PloS one, 9 (6). e99963. ISSN 1932-6203

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Piotrowska, Ewa and Jakóbkiewicz-Banecka, Joanna and Tylki-Szymańska, Anna and Liberek, Anna and Maryniak, Agnieszka and Czartoryska, Barbara and Puk, Ewa and Kloska, Anna and Liberek, Tomasz and Barańska, Sylwia and Węgrzyn, Alicja and Węgrzyn, Grzegorz (2008) Genistin-rich soy isoflavone extract in substrate reduction therapy for Sanfilippo syndrome: An open-label, pilot study in 10 pediatric patients. Current Therapeutic Research, 69 (2). pp. 166-179. ISSN 0011-393X

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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

Szczesny, Pawel and Poznański, Jarosław and Paczek, Leszek and Zielenkiewicz, Piotr (2014) Hypophosphatemia and sudden infant death syndrome (SIDS)--is ATP the link? Informa Healthcare.