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8篇 您的检索式:期刊名="Hum. Mutat"
    题名 作者 年代 出处 被引量
1Differential MicroRNA expression tracks neoplastic progression in inflammatory bowel disease‐associated colorectal cancer显示文摘ZiadKanaan Shesh N.Rai M. RobertEichenberger ChristopherBarnes Amy M.Dworkin ClaytonWeller EricCohen HenryRoberts BobbyKeskey Robert E.Petras Nigel P.S.Crawford SusanGalandiuk 2012Hum. Mutat2012,,:2
2Mutations in the human laminin β2 (LAMB2) gene and the associated phenotypic spectruma显示文摘2010Hum. Mutat2010,,9:1
3Seven novel point mutations in the uroporphyrinogen decarboxylase (UROD) gene in patients with familial porphyria cutanea tarda (f‐PCT)显示文摘M.D.Cappellini F.Martinez di Montemuros D.Tavazzi S.Fargion A.Pizzuti A.Comino T.Cainelli G.Fiorelli 2001Hum. Mutat2001,,:1
4Nonsynonymous variants in the SMAD6 gene predispose to congenital cardiovascular malformation显示文摘Huay L.Tan EliseGlen AnaT?pf DarrochHall John JO’Sullivan LindaSneddon ChristopherWren PeterAvery Richard J.Lewis Peterten Dijke Helen M.Arthur Judith A.Goodship Bernard D.Keavney 2012Hum. Mutat2012,,:1
5Impact of mutant p53 functional properties on TP53 mutation patterns and tumor phenotype: lessons from recent developments in the IARC TP53 database显示文摘AudreyPetitjean EwyMathe ShunsukeKato ChikashiIshioka Sean V.Tavtigian PierreHainaut MagaliOlivier 2007Hum. Mutat2007,,6:1
6LPIN1 gene mutations: a major cause of severe rhabdomyolysis in early childhood显示文摘CarolineMichot LaurenceHubert MichèleBrivet LindaDe Meirleir VassiliValayannopoulos WolfgangMüller‐Felber RameshVenkateswaran HélèneOgier IsabelleDesguerre CéciliaAltuzarra ElizabethThompson MartinSmitka AngelaHuebner MarieHusson RitaHorvath PatrickChinne 2010Hum. Mutat2010,,7:1
7The UMD‐p53 database: New mutations and analysis tools显示文摘ChristopheBéroud ThierrySoussi 2003Hum. Mutat2003,,3:1
8Short rare MUC6 minisatellites‐5 alleles influence susceptibility to gastric carcinoma by regulating gene显示文摘Jeong‐AhKwon Sang‐YeopLee Eun‐KyungAhn So‐YoungSeol Min ChanKim Su JinKim Seung IlKim In‐SunChu Sun‐HeeLeem 2010Hum. Mutat2010,,8:1
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