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Page 1
A Participatory Framework for Plain Language Clinical Management Guideline Development.
Francisco R, Alves S, Gomes C, Granjo P, Pascoal C, Brasil S, Neves A, Santos I, Miller A, Krasnewich D, Morava E, Lam C, Jaeken J, Videira PA, Dos Reis Ferreira V. Francisco R, et al. Among authors: morava e. Int J Environ Res Public Health. 2022 Oct 19;19(20):13506. doi: 10.3390/ijerph192013506. Int J Environ Res Public Health. 2022. PMID: 36294089 Free PMC article.
Patient reported outcomes for phosphomannomutase 2 congenital disorder of glycosylation (PMM2-CDG): listening to what matters for the patients and health professionals.
Pascoal C, Ferreira I, Teixeira C, Almeida E, Slade A, Brasil S, Francisco R, Ligezka AN, Morava E, Plotkin H, Jaeken J, Videira PA, Barros L, Dos Reis Ferreira V. Pascoal C, et al. Among authors: morava e. Orphanet J Rare Dis. 2022 Oct 29;17(1):398. doi: 10.1186/s13023-022-02551-y. Orphanet J Rare Dis. 2022. PMID: 36309700 Free PMC article.
Pathogenic DDOST Variant Is Associated with Humoral Immune Deficiency.
Sitek A, Ligezka A, Budhraja R, Morava E, Chiarella SE. Sitek A, et al. Among authors: morava e. J Clin Immunol. 2023 May;43(4):692-694. doi: 10.1007/s10875-023-01429-3. Epub 2023 Jan 12. J Clin Immunol. 2023. PMID: 36631682 Free PMC article. No abstract available.
Long-term outcomes in ALG13-Congenital Disorder of Glycosylation.
Shah R, Johnsen C, Pletcher BA, Edmondson AC, Kozicz T, Morava E. Shah R, et al. Among authors: morava e. Am J Med Genet A. 2023 Jun;191(6):1626-1631. doi: 10.1002/ajmg.a.63179. Epub 2023 Mar 17. Am J Med Genet A. 2023. PMID: 36930724
Liver transplantation recovers hepatic N-glycosylation with persistent IgG glycosylation abnormalities: Three-year follow-up in a patient with phosphomannomutase-2-congenital disorder of glycosylation.
Tahata S, Weckwerth J, Ligezka A, He M, Lee HE, Heimbach J, Ibrahim SH, Kozicz T, Furuya K, Morava E. Tahata S, et al. Among authors: morava e. Mol Genet Metab. 2023 Apr;138(4):107559. doi: 10.1016/j.ymgme.2023.107559. Epub 2023 Mar 17. Mol Genet Metab. 2023. PMID: 36965289 Free PMC article.
Novel insights into the phenotype and long-term D-gal treatment in PGM1-CDG: a case series.
Radenkovic S, Johnsen C, Schulze A, Lail G, Guilder L, Schwartz K, Schultz M, Mercimek-Andrews S, Boyer S, Morava E. Radenkovic S, et al. Among authors: morava e. Ther Adv Rare Dis. 2023 Jan 26;4:26330040221150269. doi: 10.1177/26330040221150269. eCollection 2023 Jan-Dec. Ther Adv Rare Dis. 2023. PMID: 37181075 Free PMC article.
Tracer metabolomics reveals the role of aldose reductase in glycosylation.
Radenkovic S, Ligezka AN, Mokashi SS, Driesen K, Dukes-Rimsky L, Preston G, Owuocha LF, Sabbagh L, Mousa J, Lam C, Edmondson A, Larson A, Schultz M, Vermeersch P, Cassiman D, Witters P, Beamer LJ, Kozicz T, Flanagan-Steet H, Ghesquière B, Morava E. Radenkovic S, et al. Among authors: morava e. Cell Rep Med. 2023 Jun 20;4(6):101056. doi: 10.1016/j.xcrm.2023.101056. Epub 2023 May 30. Cell Rep Med. 2023. PMID: 37257447 Free PMC article.
HNRNPC haploinsufficiency affects alternative splicing of intellectual disability-associated genes and causes a neurodevelopmental disorder.
Niggl E, Bouman A, Briere LC, Hoogenboezem RM, Wallaard I, Park J, Admard J, Wilke M, Harris-Mostert EDRO, Elgersma M, Bain J, Balasubramanian M, Banka S, Benke PJ, Bertrand M, Blesson AE, Clayton-Smith J, Ellingford JM, Gillentine MA, Goodloe DH, Haack TB, Jain M, Krantz I, Luu SM, McPheron M, Muss CL, Raible SE, Robin NH, Spiller M, Starling S, Sweetser DA, Thiffault I, Vetrini F, Witt D, Woods E, Zhou D; Genomics England Research Consortium; Undiagnosed Diseases Network; Elgersma Y, van Esbroeck ACM. Niggl E, et al. Am J Hum Genet. 2023 Aug 3;110(8):1414-1435. doi: 10.1016/j.ajhg.2023.07.005. Am J Hum Genet. 2023. PMID: 37541189 Free PMC article.
440 results