《AmericanJournalofHumanGenetics》期刊第60页200条数据 

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181.《Mechanisms of Genomic Instabilities Underlying Two Common Fragile-Site-Associated Loci, PARK2 and DMD, in Germ Cell and Cancer Cell Lines》

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182.《Whole Exome Sequencing and Homozygosity Mapping Identify Mutation in the Cell Polarity Protein GPSM2 as the Cause of Nonsyndromic Hearing Loss DFNB82》

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183.《Mesomelia-Synostoses Syndrome Results from Deletion of SULF1 and SLCO5A1 Genes at 8q13》

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184.《Genomic Duplication and Overexpression of TJP2/ZO-2 Leads to Altered Expression of Apoptosis Genes in Progressive Nonsyndromic Hearing Loss DFNA51》

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185.《Identification of a Frameshift Mutation in Osterix in a Patient with Recessive Osteogenesis Imperfecta》

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186.《Mutations in C12orf65 in Patients with Encephalomyopathy and a Mitochondrial Translation Defect》

genetics_thesis/040004249720.html

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187.《Spoiling the Whole Bunch: Quality Control Aimed at Preserving the Integrity of High-Throughput Genotyping》

genetics_thesis/040004249721.html

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188.《Mosaic Uniparental Disomies and Aneuploidies as Large Structural Variants of the Human Genome》

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189.《A Versatile Gene-Based Test for Genome-wide Association Studies》

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190.《Terminal Osseous Dysplasia Is Caused by a Single Recurrent Mutation in the FLNA Gene》

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191.《Familial Isolated Clubfoot Is Associated with Recurrent Chromosome 17q23.1q23.2 Microduplications Containing TBX4》

genetics_thesis/040004249725.html

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192.《Epigenetic Regulation of Human γ-Glutamyl Hydrolase Activity in Acute Lymphoblastic Leukemia Cells》

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193.《Loss-of-Function Mutations in HPSE2 Cause the Autosomal Recessive Urofacial Syndrome》

genetics_thesis/040004249727.html

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194.《This Month in The Journal》

genetics_thesis/040004249728.html

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195.《This Month in Genetics》

genetics_thesis/040004249729.html

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196.《The Woman Who Walked into the Sea: Huntington's and the Making of a Genetic Disease》

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197.《Pooled Association Tests for Rare Variants in Exon-Resequencing Studies》

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198.《Haploinsufficiency of TAB2 Causes Congenital Heart Defects in Humans》

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199.《Abraham's Children in the Genome Era: Major Jewish Diaspora Populations Comprise Distinct Genetic Clusters with Shared Middle Eastern Ancestry》

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200.《Insights into Colon Cancer Etiology via a Regularized Approach to Gene Set Analysis of GWAS Data》

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