个人简介
姓名：李琳 职称：教授
研究领域
遗传性疾病
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
近期论文
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.