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Philip D. Pallister of Montana.
Opitz JM, Mullen P, Elias AF. Opitz JM, et al. Among authors: elias af. Am J Med Genet A. 2019 Jan;179(1):9-12. doi: 10.1002/ajmg.a.60695. Epub 2018 Dec 20. Am J Med Genet A. 2019. PMID: 30569546 No abstract available.
SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.
Ng BG, Sosicka P, Agadi S, Almannai M, Bacino CA, Barone R, Botto LD, Burton JE, Carlston C, Chung BH, Cohen JS, Coman D, Dipple KM, Dorrani N, Dobyns WB, Elias AF, Epstein L, Gahl WA, Garozzo D, Hammer TB, Haven J, Héron D, Herzog M, Hoganson GE, Hunter JM, Jain M, Juusola J, Lakhani S, Lee H, Lee J, Lewis K, Longo N, Lourenço CM, Mak CCY, McKnight D, Mendelsohn BA, Mignot C, Mirzaa G, Mitchell W, Muhle H, Nelson SF, Olczak M, Palmer CGS, Partikian A, Patterson MC, Pierson TM, Quinonez SC, Regan BM, Ross ME, Guillen Sacoto MJ, Scaglia F, Scheffer IE, Segal D, Singhal NS, Striano P, Sturiale L, Symonds JD, Tang S, Vilain E, Willis M, Wolfe LA, Yang H, Yano S, Powis Z, Suchy SF, Rosenfeld JA, Edmondson AC, Grunewald S, Freeze HH. Ng BG, et al. Among authors: elias af. Hum Mutat. 2019 Jul;40(7):908-925. doi: 10.1002/humu.23731. Epub 2019 Apr 24. Hum Mutat. 2019. PMID: 30817854 Free PMC article.
Ensuring equity: Pharmacogenetic implementation in rural and tribal communities.
Leitch TM, Killam SR, Brown KE, Katseanes KC, George KM, Schwanke C, Loveland J, Elias AF, Haney K, Krebsbach K, Muzquiz LI, Trinidad SB, Woodahl EL. Leitch TM, et al. Among authors: elias af. Front Pharmacol. 2022 Sep 13;13:953142. doi: 10.3389/fphar.2022.953142. eCollection 2022. Front Pharmacol. 2022. PMID: 36176435 Free PMC article.
N-glycome analysis detects dysglycosylation missed by conventional methods in SLC39A8 deficiency.
Park JH, Mealer RG, Elias AF, Hoffmann S, Grüneberg M, Biskup S, Fobker M, Haven J, Mangels U, Reunert J, Rust S, Schoof J, Schwanke C, Smoller JW, Cummings RD, Marquardt T. Park JH, et al. Among authors: elias af. J Inherit Metab Dis. 2020 Nov;43(6):1370-1381. doi: 10.1002/jimd.12306. Epub 2020 Sep 14. J Inherit Metab Dis. 2020. PMID: 32852845 Free PMC article.
Pathogenic variants in SQOR encoding sulfide:quinone oxidoreductase are a potentially treatable cause of Leigh disease.
Friederich MW, Elias AF, Kuster A, Laugwitz L, Larson AA, Landry AP, Ellwood-Digel L, Mirsky DM, Dimmock D, Haven J, Jiang H, MacLean KN, Styren K, Schoof J, Goujon L, Lefrancois T, Friederich M, Coughlin CR 2nd, Banerjee R, Haack TB, Van Hove JLK. Friederich MW, et al. Among authors: elias af. J Inherit Metab Dis. 2020 Sep;43(5):1024-1036. doi: 10.1002/jimd.12232. Epub 2020 Apr 15. J Inherit Metab Dis. 2020. PMID: 32160317 Free PMC article.
Clinical, neuroradiological, and biochemical features of SLC35A2-CDG patients.
Vals MA, Ashikov A, Ilves P, Loorits D, Zeng Q, Barone R, Huijben K, Sykut-Cegielska J, Diogo L, Elias AF, Greenwood RS, Grunewald S, van Hasselt PM, van de Kamp JM, Mancini G, Okninska A, Pajusalu S, Rudd PM, Rustad CF, Salvarinova R, de Vries BBA, Wolf NI; EPGEN Study; Ng BG, Freeze HH, Lefeber DJ, Õunap K. Vals MA, et al. Among authors: elias af. J Inherit Metab Dis. 2019 May;42(3):553-564. doi: 10.1002/jimd.12055. Epub 2019 Feb 11. J Inherit Metab Dis. 2019. PMID: 30746764
37 results