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101 results

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A specific mutation in TBL1XR1 causes Pierpont syndrome.
Heinen CA, Jongejan A, Watson PJ, Redeker B, Boelen A, Boudzovitch-Surovtseva O, Forzano F, Hordijk R, Kelley R, Olney AH, Pierpont ME, Schaefer GB, Stewart F, van Trotsenburg AS, Fliers E, Schwabe JW, Hennekam RC. Heinen CA, et al. J Med Genet. 2016 May;53(5):330-7. doi: 10.1136/jmedgenet-2015-103233. Epub 2016 Jan 14. J Med Genet. 2016. PMID: 26769062 Free PMC article.
Progressive cavitating leukoencephalopathy: a novel childhood disease.
Naidu S, Bibat G, Lin D, Burger P, Barker P, Rosemberg S, Braverman N, Arroyo H, Dowling M, Hamosh A, Kimonis V, Blank C, Fiumara A, Facchini S, Singhal B, Moser H, Kelley R, DiMauro S. Naidu S, et al. Ann Neurol. 2005 Dec;58(6):929-38. doi: 10.1002/ana.20671. Ann Neurol. 2005. PMID: 16315274 Free article.
Randomized open-label trial of dextromethorphan in Rett syndrome.
Smith-Hicks CL, Gupta S, Ewen JB, Hong M, Kratz L, Kelley R, Tierney E, Vaurio R, Bibat G, Sanyal A, Yenokyan G, Brereton N, Johnston MV, Naidu S. Smith-Hicks CL, et al. Neurology. 2017 Oct 17;89(16):1684-1690. doi: 10.1212/WNL.0000000000004515. Epub 2017 Sep 20. Neurology. 2017. PMID: 28931647 Free PMC article. Clinical Trial.
Upgrades to x-ray microcalorimeter fusion diagnostic to improve calibration, spectral bandwidth selection, and count rate adjustment.
Kubala SZ, Beatty CB, Beiersdorfer P, Brown GV, Den Hartog DJ, Eckart ME, Flores-Alimboyoguen HJ, Hell N, Kelley RL, Kilbourne CA, Leutenegger MA, Magee EW, Porter FS, Witthoeft MC. Kubala SZ, et al. Among authors: kelley rl. Rev Sci Instrum. 2024 Dec 1;95(12):123516. doi: 10.1063/5.0219592. Rev Sci Instrum. 2024. PMID: 39737518
A biomimetic sperm selection device for routine sperm selection.
Vasilescu SA, Goss DM, Gurner KH, Kelley RL, Mazi M, De Bond FK, Lorimer J, Horta F, Parast FY, Gardner DK, Nosrati R, Warkiani ME. Vasilescu SA, et al. Among authors: kelley rl. Reprod Biomed Online. 2024 Sep 11;50(2):104433. doi: 10.1016/j.rbmo.2024.104433. Online ahead of print. Reprod Biomed Online. 2024. PMID: 39721152 Free article.
Deep learning versus manual morphology-based embryo selection in IVF: a randomized, double-blind noninferiority trial.
Illingworth PJ, Venetis C, Gardner DK, Nelson SM, Berntsen J, Larman MG, Agresta F, Ahitan S, Ahlström A, Cattrall F, Cooke S, Demmers K, Gabrielsen A, Hindkjær J, Kelley RL, Knight C, Lee L, Lahoud R, Mangat M, Park H, Price A, Trew G, Troest B, Vincent A, Wennerström S, Zujovic L, Hardarson T. Illingworth PJ, et al. Among authors: kelley rl. Nat Med. 2024 Nov;30(11):3114-3120. doi: 10.1038/s41591-024-03166-5. Epub 2024 Aug 9. Nat Med. 2024. PMID: 39122964 Free PMC article. Clinical Trial.
The Precision Interventions for Severe and/or Exacerbation-Prone (PrecISE) Asthma Network: An overview of Network organization, procedures, and interventions.
Georas SN, Wright RJ, Ivanova A, Israel E, LaVange LM, Akuthota P, Carr TF, Denlinger LC, Fajt ML, Kumar R, O'Neal WK, Phipatanakul W, Szefler SJ, Aronica MA, Bacharier LB, Burbank AJ, Castro M, Crotty Alexander L, Bamdad J, Cardet JC, Comhair SAA, Covar RA, DiMango EA, Erwin K, Erzurum SC, Fahy JV, Gaffin JM, Gaston B, Gerald LB, Hoffman EA, Holguin F, Jackson DJ, James J, Jarjour NN, Kenyon NJ, Khatri S, Kirwan JP, Kraft M, Krishnan JA, Liu AH, Liu MC, Marquis MA, Martinez F, Mey J, Moore WC, Moy JN, Ortega VE, Peden DB, Pennington E, Peters MC, Ross K, Sanchez M, Smith LJ, Sorkness RL, Wechsler ME, Wenzel SE, White SR, Zein J, Zeki AA, Noel P; PrecISE Study Team. Georas SN, et al. J Allergy Clin Immunol. 2022 Feb;149(2):488-516.e9. doi: 10.1016/j.jaci.2021.10.035. Epub 2021 Nov 29. J Allergy Clin Immunol. 2022. PMID: 34848210 Free PMC article. Review.
101 results