个人简历

姓名：李琳
职称：教授

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.
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