奋斗的历程辉煌的人生——献给我国著名医学遗传学家孙开来教授
강두적역정휘황적인생——헌급아국저명의학유전학가손개래교수
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辛勤耕耘 桃李芳菲纪念我国著名医学与人类遗传学家——李璞先生
신근경운 도리방비기념아국저명의학여인류유전학가——리박선생
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我国医学遗传学奠基人之一——罗会元教授
아국의학유전학전기인지일——라회원교수
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活体电转化技术在新生小鼠视网膜中的应用
활체전전화기술재신생소서시망막중적응용
In vivo electroporation of newborn mouse retina
활체전전화%신생소서%시망막%빙동절편
in vivo electroporation%newborn mouse%retina%cryo-sections
脊髓性肌萎缩症患者尿液细胞模型的建立
척수성기위축증환자뇨액세포모형적건립
The construction of urine-derived cell lines from patients with spinal muscular atrophy
척수성기위축증%운동신경원생존단백%뇨액%세포배양
spinal muscular atrophy%survival of motor neuron protein%urine%cell culture
6个线粒体脑肌病伴高乳酸血症和卒中样发作综合征(MELAS)家系先证者线粒体基因全序列比较分析
6개선립체뇌기병반고유산혈증화졸중양발작종합정(MELAS)가계선증자선립체기인전서렬비교분석
Mitochondrial genome analysis in the probands of six Chinese families with MELAS
선립체기인%선립체뇌기병반고유산혈증화졸중양발작종합정%다태성%표형
mitochondrial DNA%MELAS%polymorphism%phenotype
一个中国遗传性血色病家系致病基因的突变分析
일개중국유전성혈색병가계치병기인적돌변분석
Mutation analysis of the pathogenic gene in a Chinese family with hereditary hemochromatosis
유전성혈색병%HJV기인%p.Q6H%p.C321X%전외현자조측서
hereditary hemochromatosis%HJV%p.Q6H%p.C321X%whole-exome sequencing
重复引物PCR技术在超大片段动态突变疾病基因检测中的应用
중복인물PCR기술재초대편단동태돌변질병기인검측중적응용
Advances on repeat-primed PCR assay for the genetic diagnosis of dynamic mutation diseases with large pathogenic expansions
중복인물PCR기술%초대편단중복서렬%기인진단%동태돌변질병
repeat-primed PCR assay%large pathogenic expansions%genetic diagnosis%dynamic mutation disease
神经嵴发育异常导致综合征型耳聋的机制
신경척발육이상도치종합정형이롱적궤제
Progress in the study of syndromic hearing loss resulted from neural crest abnormalities
종합정형이롱%신경척%기인돌변%기인호작
syndromic hearing loss%neural crest%gene mutation%gene interaction
基因诊断中测序技术的应用及优缺点
기인진단중측서기술적응용급우결점
Sequencing technology in gene diagnosis and its application
기인병%기인진단%측서기술%연구진전
genetic disease%gene diagnosis%sequencing technology%application
新一代测序技术在遗传性耳聋基因研究及诊断中的应用
신일대측서기술재유전성이롱기인연구급진단중적응용
Application of next generation sequencing in gene identification and genetic diagnosis of hereditary hearing loss
신일대측서%이롱%유전성질병%기인진단
next generation sequencing%hearing loss%genetic disease%genetic diagnosis
基于高通量测序的全基因组关联研究策略
기우고통량측서적전기인조관련연구책략
Strategies of genome-wide association study based on high-throughput sequencing
전기인조관련연구%제이대측서%개체화의료
genome-wide association study (GWAS)%next-generation sequencing (NGS)%personalized medicine (PM)
全基因组测序及其在遗传性疾病研究及诊断中的应用
전기인조측서급기재유전성질병연구급진단중적응용
Whole-genome sequencing and its application in the research and diagnoses of genetic diseases
전기인조측서%유전성질병%치병기인%림상진단
whole-genome sequencing%genetic diseases%pathogenic genes%clinical diagnosis
外显子组测序在人类疾病中的应用
외현자조측서재인류질병중적응용
The application of exome sequencing in human diseases
외현자조측서%맹덕이유전질병%복잡질병
exome sequencing%Mendelian disorder%complex disease
单细胞转录组高通量测序分析新进展
단세포전록조고통량측서분석신진전
Recent progress in single-cell RNA-Seq analysis
단세포분석%전록조%고통량측서%RNA-Seq%이질성
single-cell analysis%transcriptome%high-throughput sequencing%RNA-Seq%cell heterogeneity
