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104 results

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Page 1
Efficacy and Safety of Ketogenic Diet Treatment in Pediatric Patients with Mitochondrial Disease.
Wesół-Kucharska D, Greczan M, Kaczor M, Ehmke Vel Emczyńska-Seliga E, Hajdacka M, Czekuć-Kryśkiewicz E, Piekutowska-Abramczuk D, Halat-Wolska P, Ciara E, Jaworski M, Jezela-Stanek A, Rokicki D. Wesół-Kucharska D, et al. Among authors: jezela stanek a. Nutrients. 2024 Mar 13;16(6):812. doi: 10.3390/nu16060812. Nutrients. 2024. PMID: 38542723 Free PMC article.
Implementation of the web-based calculator estimating odds ratio of severe COVID-19 for unvaccinated individuals in a country with high coronavirus-related death toll.
Kwasniewski M, Korotko U, Chwialkowska K, Niemira M, Jaroszewicz J, Sobala-Szczygiel B, Puzanowska B, Moniuszko-Malinowska A, Pancewicz S, Parfieniuk-Kowerda A, Martonik D, Zarebska-Michaluk D, Simon K, Pazgan-Simon M, Mozer-Lisewska I, Bura M, Adamek A, Tomasiewicz K, Pawłowska M, Piekarska A, Berkan-Kawinska A, Horban A, Kowalska J, Podlasin R, Wasilewski P, Azzadin A, Czuczwar M, Borys M, Piwowarczyk P, Czaban S, Bogocz J, Ochab M, Kruk A, Uszok S, Bielska A, Szałkowska A, Raczkowska J, Sokołowska G, Chorostowska-Wynimko J, Jezela-Stanek A, Rozy A, Lechowicz U, Połowianiuk U, Tycinska A, Grubczak K, Starosz A, Izdebska W, Krzemiński TF, Bousqet J, Franchini G, Hadlock J, Kretowski A, Akdis M, Akdis CA, Sokolowska M, Eljaszewicz A, Flisiak R, Moniuszko M. Kwasniewski M, et al. Allergy. 2023 Jan;78(1):311-314. doi: 10.1111/all.15524. Epub 2022 Sep 29. Allergy. 2023. PMID: 36129377 Free PMC article. No abstract available.
Clinical Presentation of a Complex Neurodevelopmental Disorder Caused by Mutations in ADNP.
Van Dijck A, Vulto-van Silfhout AT, Cappuyns E, van der Werf IM, Mancini GM, Tzschach A, Bernier R, Gozes I, Eichler EE, Romano C, Lindstrand A, Nordgren A; ADNP Consortium; Kvarnung M, Kleefstra T, de Vries BBA, Küry S, Rosenfeld JA, Meuwissen ME, Vandeweyer G, Kooy RF. Van Dijck A, et al. Biol Psychiatry. 2019 Feb 15;85(4):287-297. doi: 10.1016/j.biopsych.2018.02.1173. Epub 2018 Mar 15. Biol Psychiatry. 2019. PMID: 29724491 Free PMC article.
Editorial.
Jezela-Stanek A. Jezela-Stanek A. J Mother Child. 2021 Oct 11;25(1):1. doi: 10.34763/jmotherandchild.20212501.edit.2021_25_01. J Mother Child. 2021. PMID: 34643349 Free PMC article. No abstract available.
Common, low-frequency, rare, and ultra-rare coding variants contribute to COVID-19 severity.
Fallerini C, Picchiotti N, Baldassarri M, Zguro K, Daga S, Fava F, Benetti E, Amitrano S, Bruttini M, Palmieri M, Croci S, Lista M, Beligni G, Valentino F, Meloni I, Tanfoni M, Minnai F, Colombo F, Cabri E, Fratelli M, Gabbi C, Mantovani S, Frullanti E, Gori M, Crawley FP, Butler-Laporte G, Richards B, Zeberg H, Lipcsey M, Hultström M, Ludwig KU, Schulte EC, Pairo-Castineira E, Baillie JK, Schmidt A, Frithiof R; WES/WGS Working Group Within the HGI; GenOMICC Consortium; GEN-COVID Multicenter Study; Mari F, Renieri A, Furini S. Fallerini C, et al. Hum Genet. 2022 Jan;141(1):147-173. doi: 10.1007/s00439-021-02397-7. Epub 2021 Dec 10. Hum Genet. 2022. PMID: 34889978 Free PMC article.
Four novel RSK2 mutations in females with Coffin-Lowry syndrome.
Jurkiewicz D, Jezela-Stanek A, Ciara E, Piekutowska-Abramczuk D, Kugaudo M, Gajdulewicz M, Chrzanowska K, Popowska E, Krajewska-Walasek M. Jurkiewicz D, et al. Eur J Med Genet. 2010 Sep-Oct;53(5):268-73. doi: 10.1016/j.ejmg.2010.07.006. Epub 2010 Jul 15. Eur J Med Genet. 2010. PMID: 20637903
104 results