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个人简介

姓名:李琳 职称:教授

研究领域

遗传性疾病

近期论文

查看导师最新文章 (温馨提示:请注意重名现象,建议点开原文通过作者单位确认)

1.LinLi.Amissensemutationintheandrogenreceptorgenecausingandrogeninsensitivity syndromeinaChinesefamily,AsianJournalofAndrology.2017:19:260-261. 2.LinLi,ANovelMissenseMutation224G>T(R75M)inSRYCodingRegionInterfereswith NuclearImpontandResultsin46,XYCompleteGonadalDysgencsis,PLOSONE2016,12,1-14. 3.LinLi,Mappingbreakpointsofafamilialchromosomeinsertion(18.7)(922.1;q36.2q21.11)to DPP6andCACNA2DIgenesinanazo0spermicmale,Gene,Availablepnline2014,547:43-49. 4.LinLi,Familialcomplexchromosomerearrangement(CCR)involving5breakpointson chromosomes1,3and13inasevereoligospermicpatient.]AssistReprodGenet.Published online:2013,30(2);423-429. 5.LinLi,ExomesequcncingrevealsaheferozygousDl.X5motationinaChinescfamilywith autosomal-dominantsplit-hand/foormalformation,BuropcanJournalofHumanGenetics,online pablication2014(2),1-6.

学术兼职

1、中华医学会医学遗传学分会细胞遗传学组委员 2、中国优生科学协会理事

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