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Material Type: 期刊文獻
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Clinical and gene mutation analysis on Alexander's disease type Ⅱ caused by a novel GFAP mutationYun-chuang, SUN ; Yi-ning, HUANG ; ZHU, Hui ; Hai-qiang, JIN ; LI, Fan ; Zhao-xia, WANGZhongguo xian dai shen jing ji bing za zhi, 2019-01, Vol.19 (3), p.199 [同儕審閱期刊]可取得全文 |
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Material Type: 期刊文獻
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Can ParC Ser83Ile status predict fluoroquinolone efficacy in Mycoplasma genitalium infection? – Authors’ replySweeney, Emma L ; Bradshaw, Catriona S ; Murray, Gerald L ; Whiley, David MThe Lancet infectious diseases, 2022-09, Vol.22 (9), p.1274-1275 [同儕審閱期刊]可取得全文 |
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3 |
Material Type: 期刊文獻
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A novel A allele with c.499G>A mutation identified in a Chinese individualHan, Bin ; Liu, Li ; Feng, Zhihui ; Bu, XiangmaoTransfusion (Philadelphia, Pa.), 2020-06, Vol.60 (6), p.E15-E16 [同儕審閱期刊]可取得全文 |
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Material Type: 期刊文獻
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AIR TRAVELLER YIELDS A NEW VARIANT BRISTLING WITH MUTATIONSNature (London), 2021-04, Vol.592 (7854), p.331-331 [同儕審閱期刊]可取得全文 |
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5 |
Material Type: 期刊文獻
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EP15.02: Prenatal identification of novel compound heterozygous mutations associated with Ellis‐van Creveld syndrome: a case reportVo, S.T. ; Giang, H. ; Nguyen, N.H. ; Tran, T.N.Ultrasound in obstetrics & gynecology, 2019-10, Vol.54 (S1), p.316-316 [同儕審閱期刊]可取得全文 |
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6 |
Material Type: 期刊文獻
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Checking the X.509 Certificate Linter Zlint Based on Request for Comments 5280Ren, Pinghong ; Chen, Chu ; Yang, DonggangJournal of physics. Conference series, 2021-07, Vol.1972 (1), p.12016 [同儕審閱期刊]可取得全文 |
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Material Type: 期刊文獻
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GW29-e0203 Who is the pathogenic culprit? A LQTS family with three compound genetic mutationsWu, Jie ; Ohno, Seiko ; Ding, Weiguang ; Dong, Chao ; Song, Lingling ; Matsuura, Hiroshi ; Horie, MinoruJournal of the American College of Cardiology, 2018-10, Vol.72 (16), p.C170-C170 [同儕審閱期刊]可取得全文 |
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8 |
Material Type: 期刊文獻
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Unveiling the role of iPLA 2 β in neurodegeneration: From molecular mechanisms to advanced therapiesLiu, Jiabin ; Tan, Jieqiong ; Tang, Beisha ; Guo, JifengPharmacological research, 2024-04, Vol.202, p.107114 [同儕審閱期刊]可取得全文 |
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9 |
Material Type: 期刊文獻
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In-vitro-Modellierung der Noonan-Syndrom-assoziierten KardiomyopathieKleemann, Karolin ; Pietras, Jan Patrick ; Hofbeck, Michael ; Kutschka, Ingo ; Zenker, Martin ; Kensah, GeorgeZeitschrift für Herz-, Thorax- und Gefässchirurgie, 2023-06, Vol.37 (3-4), p.164-171可取得全文 |
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10 |
Material Type: 期刊文獻
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ReplyReynolds, Margaret M ; Veverka, Kevin K ; Gertz, Morie A ; Dispenzieri, Angela ; Zeldenrust, Steven R ; Leung, Nelson ; Pulido, Jose SAmerican journal of ophthalmology, 2018-02, Vol.186, p.170 [同儕審閱期刊]可取得全文 |