好文档 - 专业文书写作范文服务资料分享网站

《AmericanJournalofHumanGenetics》期刊第63页200条数据 

天下 分享 时间: 加入收藏 我要投稿 点赞

91.《POC1A Truncation Mutation Causes a Ciliopathy in Humans Characterized by Primordial Dwarfism》

genetics_thesis/040004250225.html

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-

92.《Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis Syndrome Is Caused by a POC1A Mutation》

genetics_thesis/040004250226.html

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-

93.《A Single Recurrent Mutation in the 5′-UTR of IFITM5 Causes Osteogenesis Imperfecta Type V》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004250227.html

94.《A Mutation in the 5′-UTR of IFITM5 Creates an In-Frame Start Codon and Causes Autosomal-Dominant Osteogenesis Imperfecta Type V with Hyperplastic Callus》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004250228.html

95.《De Novo Mutations in MLL Cause Wiedemann-Steiner Syndrome》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004250229.html

96.《Dominant Mutation of CCDC78 in a Unique Congenital Myopathy with Prominent Internal Nuclei and Atypical Cores》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004250230.html

97.《TCTN3 Mutations Cause Mohr-Majewski Syndrome》

genetics_thesis/040004250231.html

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-

98.《Rare De Novo Germline Copy-Number Variation in Testicular Cancer》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004250232.html

99.《A Functional Copy-Number Variation in MAPKAPK2 Predicts Risk and Prognosis of Lung Cancer》

genetics_thesis/040004250233.html

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-

100.《RBPJ Mutations Identified in Two Families Affected by Adams-Oliver Syndrome》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004250234.html

101.《A Missense Mutation in Myelin Oligodendrocyte Glycoprotein as a Cause of Familial Narcolepsy with Cataplexy》

genetics_thesis/040004250235.html

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-

102.《ABCB6 Mutations Cause Ocular Coloboma》

genetics_thesis/040004250236.html

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-

103.《A Human Homeotic Transformation Resulting from Mutations in PLCB4 and GNAI3 Causes Auriculocondylar Syndrome》

genetics_thesis/040004250237.html

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-

104.《This Month in The Journal》

genetics_thesis/040004250238.html

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-

105.《This Month in Genetics》

genetics_thesis/040004250239.html

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-

106.《Smith-Magenis Syndrome Results in Disruption of CLOCK Gene Transcription and Reveals an Integral Role for RAI1 in the Maintenance of Circadian Rhythmicity》

genetics_thesis/040004250240.html

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-

107.《Genome-wide Association Study Identifies Candidate Genes for Male Fertility Traits in Humans》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004250241.html

108.《Inclusion of Gene-Gene and Gene-Environment Interactions Unlikely to Dramatically Improve Risk Prediction for Complex Diseases》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004250242.html

109.《Evolutionary History of Copy-Number-Variable Locus for the Low-Affinity Fcγ Receptor: Mutation Rate, Autoimmune Disease, and the Legacy of Helminth Infection》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004250243.html

110.《Deleterious Mutations in LRBA Are Associated with a Syndrome of Immune Deficiency and Autoimmunity》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004250244.html

111.《Scan-Statistic Approach Identifies Clusters of Rare Disease Variants in LRP2, a Gene Linked and Associated with Autism Spectrum Disorders, in Three Datasets》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004250245.html

112.《RAD21 Mutations Cause a Human Cohesinopathy》

genetics_thesis/040004250246.html

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-

113.《Family-Based Association Studies for Next-Generation Sequencing》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004250247.html

114.《Genetic Architecture of MicroRNA Expression: Implications for the Transcriptome and Complex Traits》

genetics_thesis/040004250248.html

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-

115.《Duplication of GTF2I Results in Separation Anxiety in Mice and Humans》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004250249.html

116.《The Contribution of CLIP2 Haploinsufficiency to the Clinical Manifestations of the Williams-Beuren Syndrome》

genetics_thesis/040004250250.html

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-

117.《Mutations of the Mitochondrial-tRNA Modifier MTO1 Cause Hypertrophic Cardiomyopathy and Lactic Acidosis》

genetics_thesis/040004250251.html

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-

118.《GPSM2 Mutations Cause the Brain Malformations and Hearing Loss in Chudley-McCullough Syndrome》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004250252.html

119.《Cantú Syndrome Is Caused by Mutations in ABCC9》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004250253.html

120.《Strikingly Different Clinicopathological Phenotypes Determined by Progranulin-Mutation Dosage》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004250254.html

121.《Somatic Mosaic Activating Mutations in PIK3CA Cause CLOVES Syndrome》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004250255.html

122.《A Human Homeotic Transformation Resulting from Mutations in PLCB4 and GNAI3 Causes Auriculocondylar Syndrome》

genetics_thesis/040004250256.html

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-

123.《Inclusion of Gene-Gene and Gene-Environment Interactions Unlikely to Dramatically Improve Risk Prediction for Complex Diseases》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004250257.html

124.《Meta-analysis of Dense Genecentric Association Studies Reveals Common and Uncommon Variants Associated with Height》

genetics_thesis/040004250258.html

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-

125.《This Month in The Journal》

genetics_thesis/040004250259.html

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-

126.《This Month in Genetics》

genetics_thesis/040004250260.html

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-

127.《A General Framework for Two-Stage Analysis of Genome-wide Association Studies and Its Application to Case-Control Studies》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004250261.html

128.《Population Demographic History Can Cause the Appearance of Recombination Hotspots》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004250262.html

129.《PSORS2 Is Due to Mutations in CARD14》

genetics_thesis/040004250263.html

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-

130.《Rare and Common Variants in CARD14, Encoding an Epidermal Regulator of NF-kappaB, in Psoriasis》

genetics_thesis/040004250264.html

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-

131.《Genetic Adaptation of Fatty-Acid Metabolism: A Human-Specific Haplotype Increasing the Biosynthesis of Long-Chain Omega-3 and Omega-6 Fatty Acids》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004250265.html

132.《A Subset-Based Approach Improves Power and Interpretation for the Combined Analysis of Genetic Association Studies of Heterogeneous Traits》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004250266.html

133.《Nitric-Oxide Supplementation for Treatment of Long-Term Complications in Argininosuccinic Aciduria》

genetics_thesis/040004250267.html

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-

134.《Mutations in NSUN2 Cause Autosomal- Recessive Intellectual Disability》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004250268.html

135.《Mutation in NSUN2, which Encodes an RNA Methyltransferase, Causes Autosomal-Recessive Intellectual Disability》

genetics_thesis/040004250269.html

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-

136.《Mainzer-Saldino Syndrome Is a Ciliopathy Caused by IFT140 Mutations》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004250270.html

137.《A Truncating Mutation of CEP135 Causes Primary Microcephaly and Disturbed Centrosomal Function》

《AmericanJournalofHumanGenetics》期刊第63页200条数据 

91.《POC1ATruncationMutationCausesaCiliopathyinHumansCharacterizedbyPrimordialDwarfism》genetics_thesis/040004250225.html原文链接:https://www.zhangqiaokeyan.com/academi
推荐度:
点击下载文档文档为doc格式
1ver10lcqf3z01x0bvw21wxgu8k84a00ncj
领取福利

微信扫码领取福利

微信扫码分享