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GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects.
Platzer K, Yuan H, Schütz H, Winschel A, Chen W, Hu C, Kusumoto H, Heyne HO, Helbig KL, Tang S, Willing MC, Tinkle BT, Adams DJ, Depienne C, Keren B, Mignot C, Frengen E, Strømme P, Biskup S, Döcker D, Strom TM, Mefford HC, Myers CT, Muir AM, LaCroix A, Sadleir L, Scheffer IE, Brilstra E, van Haelst MM, van der Smagt JJ, Bok LA, Møller RS, Jensen UB, Millichap JJ, Berg AT, Goldberg EM, De Bie I, Fox S, Major P, Jones JR, Zackai EH, Abou Jamra R, Rolfs A, Leventer RJ, Lawson JA, Roscioli T, Jansen FE, Ranza E, Korff CM, Lehesjoki AE, Courage C, Linnankivi T, Smith DR, Stanley C, Mintz M, McKnight D, Decker A, Tan WH, Tarnopolsky MA, Brady LI, Wolff M, Dondit L, Pedro HF, Parisotto SE, Jones KL, Patel AD, Franz DN, Vanzo R, Marco E, Ranells JD, Di Donato N, Dobyns WB, Laube B, Traynelis SF, Lemke JR. Platzer K, et al. Among authors: smith dr. J Med Genet. 2017 Jul;54(7):460-470. doi: 10.1136/jmedgenet-2016-104509. Epub 2017 Apr 4. J Med Genet. 2017. PMID: 28377535 Free PMC article.
Targeted gene sequencing in 6994 individuals with neurodevelopmental disorder with epilepsy.
Heyne HO, Artomov M, Battke F, Bianchini C, Smith DR, Liebmann N, Tadigotla V, Stanley CM, Lal D, Rehm H, Lerche H, Daly MJ, Helbig I, Biskup S, Weber YG, Lemke JR. Heyne HO, et al. Among authors: smith dr. Genet Med. 2019 Nov;21(11):2496-2503. doi: 10.1038/s41436-019-0531-0. Epub 2019 May 6. Genet Med. 2019. PMID: 31056551 Free article.
Metagenomic analysis of medicinal Cannabis samples; pathogenic bacteria, toxigenic fungi, and beneficial microbes grow in culture-based yeast and mold tests.
McKernan K, Spangler J, Helbert Y, Lynch RC, Devitt-Lee A, Zhang L, Orphe W, Warner J, Foss T, Hudalla CJ, Silva M, Smith DR. McKernan K, et al. Among authors: smith dr. F1000Res. 2016 Oct 7;5:2471. doi: 10.12688/f1000research.9662.1. eCollection 2016. F1000Res. 2016. PMID: 27853518 Free PMC article.
A multi-environmental source approach to explore associations between metals exposure and olfactory identification among school-age children residing in northern Italy.
Renzetti S, van Thriel C, Lucchini RG, Smith DR, Peli M, Borgese L, Cirelli P, Bilo F, Patrono A, Cagna G, Rechtman E, Idili S, Ongaro E, Calza S, Rota M, Wright RO, Claus Henn B, Horton MK, Placidi D. Renzetti S, et al. Among authors: smith dr. J Expo Sci Environ Epidemiol. 2024 May 27. doi: 10.1038/s41370-024-00687-6. Online ahead of print. J Expo Sci Environ Epidemiol. 2024. PMID: 38802534
The LTAR-integrated grazing land common experiment at the Texas Gulf.
Schantz MC, Smith DR, Harmel D, Goodwin DJ, Tolleson DR, Leyton JMO, Flynn KC, Yost J, Thorp KR, Arnold JG, White MJ, Adhikari K, Hajda C. Schantz MC, et al. Among authors: smith dr. J Environ Qual. 2024 May 26. doi: 10.1002/jeq2.20573. Online ahead of print. J Environ Qual. 2024. PMID: 38797914
Child and Adolescent Manganese Biomarkers and Adolescent Postural Balance in Marietta CARES Cohort Participants.
McBride DE, Bhattacharya A, Sucharew H, Brunst KJ, Barnas M, Cox C, Altman L, Hilbert TJ, Burkle J, Westneat S, Martin KV, Parsons PJ, Praamsma ML, Palmer CD, Kannan K, Smith DR, Wright R, Amarasiriwardena C, Dietrich KN, Cecil KM, Haynes EN. McBride DE, et al. Among authors: smith dr. Environ Health Perspect. 2024 May;132(5):57010. doi: 10.1289/EHP13381. Epub 2024 May 23. Environ Health Perspect. 2024. PMID: 38780454 Free PMC article.
1,784 results