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402 results

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Page 1
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: decker a. 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.
Expanding the phenotypic spectrum of GABRG2 variants: a recurrent GABRG2 missense variant associated with a severe phenotype.
Zou F, McWalter K, Schmidt L, Decker A, Picker JD, Lincoln S, Sweetser DA, Briere LC, Harini C; Members of the Undiagnosed Diseases Network; Marsh E, Medne L, Wang RY, Leydiker K, Mower A, Visser G, Cuppen I, van Gassen KL, van der Smagt J, Yousaf A, Tennison M, Shanmugham A, Butler E, Richard G, McKnight D. Zou F, et al. Among authors: decker a. J Neurogenet. 2017 Mar-Jun;31(1-2):30-36. doi: 10.1080/01677063.2017.1315417. Epub 2017 May 2. J Neurogenet. 2017. PMID: 28460589 Free PMC article.
Case report: Lichenoid esophagitis revealing an HIV infection.
Marschner J, Schmitt-Graeff A, Kreisel W, Decker A, Schauer F. Marschner J, et al. Among authors: decker a. Front Med (Lausanne). 2024 Oct 23;11:1477787. doi: 10.3389/fmed.2024.1477787. eCollection 2024. Front Med (Lausanne). 2024. PMID: 39512615 Free PMC article.
STRIVE pilot trial: a protocol for a multicentre pragmatic internal pilot randomised controlled trial of Structured TRaining to Improve fitness in a Virtual Environment (STRIVE) before surgery.
McIsaac DI, Tandon P, Kidd G, Branje K, Hladkowicz E, Hallet J, Wijeysundera DN, Lee S, McNeely ML, Taljaard M, Gillis C; STRIVE Trial Investigators; Canadian Perioperative Anesthesia Clinical Trials Group (PACT). McIsaac DI, et al. BMJ Open. 2024 Nov 7;14(11):e093710. doi: 10.1136/bmjopen-2024-093710. BMJ Open. 2024. PMID: 39510784 Free PMC article.
Mapping multimodal phenotypes to perturbations in cells and tissue with CRISPRmap.
Gu J, Iyer A, Wesley B, Taglialatela A, Leuzzi G, Hangai S, Decker A, Gu R, Klickstein N, Shuai Y, Jankovic K, Parker-Burns L, Jin Y, Zhang JY, Hong J, Niu X, Costa JA, Pezet MG, Chou J, Snoeck HW, Landau DA, Azizi E, Chan EM, Ciccia A, Gaublomme JT. Gu J, et al. Among authors: decker a. Nat Biotechnol. 2024 Oct 7. doi: 10.1038/s41587-024-02386-x. Online ahead of print. Nat Biotechnol. 2024. PMID: 39375448
402 results