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105 results

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Deleterious, protein-altering variants in the transcriptional coregulator ZMYM3 in 27 individuals with a neurodevelopmental delay phenotype.
Hiatt SM, Trajkova S, Sebastiano MR, Partridge EC, Abidi FE, Anderson A, Ansar M, Antonarakis SE, Azadi A, Bachmann-Gagescu R, Bartuli A, Benech C, Berkowitz JL, Betti MJ, Brusco A, Cannon A, Caron G, Chen Y, Cochran ME, Coleman TF, Crenshaw MM, Cuisset L, Curry CJ, Darvish H, Demirdas S, Descartes M, Douglas J, Dyment DA, Elloumi HZ, Ermondi G, Faoucher M, Farrow EG, Felker SA, Fisher H, Hurst ACE, Joset P, Kelly MA, Kmoch S, Leadem BR, Lyons MJ, Macchiaiolo M, Magner M, Mandrile G, Mattioli F, McEown M, Meadows SK, Medne L, Meeks NJL, Montgomery S, Napier MP, Natowicz M, Newberry KM, Niceta M, Noskova L, Nowak CB, Noyes AG, Osmond M, Prijoles EJ, Pugh J, Pullano V, Quélin C, Rahimi-Aliabadi S, Rauch A, Redon S, Reymond A, Schwager CR, Sellars EA, Scheuerle AE, Shukarova-Angelovska E, Skraban C, Stolerman E, Sullivan BR, Tartaglia M, Thiffault I, Uguen K, Umaña LA, van Bever Y, van der Crabben SN, van Slegtenhorst MA, Waisfisz Q, Washington C, Rodan LH, Myers RM, Cooper GM. Hiatt SM, et al. Among authors: magner m. Am J Hum Genet. 2023 Feb 2;110(2):215-227. doi: 10.1016/j.ajhg.2022.12.007. Epub 2022 Dec 30. Am J Hum Genet. 2023. PMID: 36586412 Free PMC article.
Clinical manifestation of mitochondrial diseases.
Magner M, Kolářová H, Honzik T, Švandová I, Zeman J. Magner M, et al. Dev Period Med. 2015 Oct-Dec;19(4):441-9. Dev Period Med. 2015. PMID: 26982751 Review.
Sideroblastic anemia associated with multisystem mitochondrial disorders.
Tesarova M, Vondrackova A, Stufkova H, Veprekova L, Stranecky V, Berankova K, Hansikova H, Magner M, Galoova N, Honzik T, Vodickova E, Stary J, Zeman J. Tesarova M, et al. Among authors: magner m. Pediatr Blood Cancer. 2019 Apr;66(4):e27591. doi: 10.1002/pbc.27591. Epub 2018 Dec 26. Pediatr Blood Cancer. 2019. PMID: 30588737
European Young Pediatricians Association: Laying the Foundations for Collaboration, Integration, and Networking among Pediatricians of the Future.
Gray S, Raschetti R, Beşer ÖF, Elicin PU, Aversa S, Pamuk G, Ozdil M, Berlese P, Ferreira-Magalhães M, Magner M, Ignat A, Lupu VV, Zsigmond B, Ghazaryan H, Rosenbaum S, Bendavid M, Bacquet M, Varga N, James D, Bon A, Vecchio D. Gray S, et al. Among authors: magner m. J Pediatr. 2016 Apr;171:324-5.e1. doi: 10.1016/j.jpeds.2015.12.013. J Pediatr. 2016. PMID: 27017465 Free article. No abstract available.
[Tracheal stent implantation in an adult patient with Hunter syndrome].
Murgašová L, Votruba J, Otáhal M, Michálek P, Zeman J, Magner M. Murgašová L, et al. Among authors: magner m. Laryngorhinootologie. 2020 Mar;99(3):173-175. doi: 10.1055/a-1018-5878. Epub 2020 Jan 9. Laryngorhinootologie. 2020. PMID: 31918447 German. No abstract available.
Fatal neonatal nephrocutaneous syndrome in 18 Roma children with EGFR deficiency.
Mazurova S, Tesarova M, Zeman J, Stranecky V, Hansikova H, Baxova A, Giertlova M, Lastuvkova J, Chovanova V, Rusnakova S, Knapkova M, Minarik G, Honzik T, Magner M. Mazurova S, et al. Among authors: magner m. J Dermatol. 2020 Jun;47(6):663-668. doi: 10.1111/1346-8138.15317. Epub 2020 Apr 6. J Dermatol. 2020. PMID: 32250467
105 results