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261 results

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Page 1
19p13 microduplications encompassing NFIX are responsible for intellectual disability, short stature and small head circumference.
Trimouille A, Houcinat N, Vuillaume ML, Fergelot P, Boucher C, Toutain J, Caignec CL, Vincent M, Nizon M, Andrieux J, Vanlerberghe C, Delobel B, Duban B, Mansour S, Baple E, McKeown C, Poke G, Robertshaw K, Fifield E, Fabretto A, Pecile V, Gasparini P, Carrozzi M, Lacombe D, Arveiler B, Rooryck C, Moutton S. Trimouille A, et al. Among authors: mckeown c. Eur J Hum Genet. 2018 Jan;26(1):85-93. doi: 10.1038/s41431-017-0037-7. Epub 2017 Nov 28. Eur J Hum Genet. 2018. PMID: 29184170 Free PMC article.
The diverse pleiotropic effects of spliceosomal protein PUF60: A case series of Verheij syndrome.
Fennell AP, Baxter AE, Berkovic SF, Ellaway CJ, Forwood C, Hildebrand MS, Kumble S, McKeown C, Mowat D, Poke G, Rajagopalan S, Regan BM, Scheffer IE, Stark Z, Stutterd CA, Tan TY, Wilkins EJ, Yeung A, Hunter MF. Fennell AP, et al. Among authors: mckeown c. Am J Med Genet A. 2022 Dec;188(12):3432-3447. doi: 10.1002/ajmg.a.62950. Epub 2022 Aug 17. Am J Med Genet A. 2022. PMID: 36367278
Biallelic loss-of-function variants in TBC1D2B cause a neurodevelopmental disorder with seizures and gingival overgrowth.
Harms FL, Parthasarathy P, Zorndt D, Alawi M, Fuchs S, Halliday BJ, McKeown C, Sampaio H, Radhakrishnan N, Radhakrishnan SK, Gorce M, Navet B, Ziegler A, Sachdev R, Robertson SP, Nampoothiri S, Kutsche K. Harms FL, et al. Among authors: mckeown c. Hum Mutat. 2020 Sep;41(9):1645-1661. doi: 10.1002/humu.24071. Epub 2020 Jul 15. Hum Mutat. 2020. PMID: 32623794
One-year follow-up of clinical convergence measures in children enrolled in the Convergence Insufficiency Treatment Trial-Attention and Reading Trial.
Morrison AM, Kulp MT, Cotter SA, Scheiman MM, Jenewein EC, Roberts TL, Mitchell GL, Arnold LE, Retnasothi D, Bade A, Hertle R, Borsting E; Convergence Insufficiency Treatment Trial—Attention and Reading (CITT‐ART) Investigator Group. Morrison AM, et al. Ophthalmic Physiol Opt. 2024 Nov;44(7):1346-1353. doi: 10.1111/opo.13378. Epub 2024 Aug 14. Ophthalmic Physiol Opt. 2024. PMID: 39141379 Clinical Trial.
Safety but limited efficacy of donor lymphocyte infusion for post-transplantation cyclophosphamide-treated patients.
Shanmugasundaram K, Napier S, Dimitrova D, Stokes A, Wilder J, Chai A, Lisco A, Anderson MV, Sereti I, Uzel G, Freeman AF, McKeown C, Sponaugle J, Sabina R, Rechache K, Hyder MA, Kanakry JA, Kanakry CG. Shanmugasundaram K, et al. Among authors: mckeown c. Bone Marrow Transplant. 2024 Nov;59(11):1513-1524. doi: 10.1038/s41409-024-02312-4. Epub 2024 Aug 12. Bone Marrow Transplant. 2024. PMID: 39134710 Free PMC article.
Student experiences with a molecular biotechnology course containing an interactive 3D immersive simulation and its impact on motivational beliefs.
Spencer D, McKeown C, Tredwell D, Huckaby B, Wiedner A, Dums JT, Cartwright EL, Potts CM, Sudduth N, Brown E, Albright P, Jhala A, Srougi MC. Spencer D, et al. Among authors: mckeown c. PLoS One. 2024 Jul 25;19(7):e0306224. doi: 10.1371/journal.pone.0306224. eCollection 2024. PLoS One. 2024. PMID: 39052561 Free PMC article.
261 results