《AmericanJournalofHumanGenetics》期刊第59页200条数据 

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139.《Molecular Basis of DFNB73: Mutations of BSND Can Cause Nonsyndromic Deafness or Bartter Syndrome》

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140.《Spinal Muscular Atrophy with Pontocerebellar Hypoplasia Is Caused by a Mutation in the VRK1 Gene》

genetics_thesis/040004249474.html

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141.《A Heterozygous Truncating Mutation in RRM2B Causes Autosomal-Dominant Progressive External Ophthalmoplegia with Multiple mtDNA Deletions》

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142.《IDS Crossing of the Blood-Brain Barrier Corrects CNS Defects in MPSII Mice》

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143.《PRKCA: A Positional Candidate Gene for Body Mass Index and Asthma》

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144.《This Month in The Journal》

genetics_thesis/040004249478.html

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145.《This Month in Genetics》

genetics_thesis/040004249479.html

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146.《Closing the Gap: Inverting the Genetics Curriculum to Ensure an Informed Public》

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147.《Gene Ontology Analysis of GWA Study Data Sets Provides Insights into the Biology of Bipolar Disorder》

genetics_thesis/040004249481.html

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148.《Noncoding Mutations of HGF Are Associated with Nonsyndromic Hearing Loss, DFNB39》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004249482.html

149.《Mutation in the AP4M1 Gene Provides a Model for Neuroaxonal Injury in Cerebral Palsy》

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150.《Multiple Synostoses Syndrome Is Due to a Missense Mutation in Exon 2 of FGF9 Gene》

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151.《Diverse Evolutionary Histories for β-adrenoreceptor Genes in Humans》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004249485.html

152.《Deficiency of Dol-P-Man Synthase Subunit DPM3 Bridges the Congenital Disorders of Glycosylation with the Dystroglycanopathies》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004249486.html

153.《PRKCA: A Positional Candidate Gene for Body Mass Index and Asthma》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004249487.html

154.《WNT10A Mutations Are a Frequent Cause of a Broad Spectrum of

Ectodermal Dysplasias with Sex-Biased Manifestation Pattern in Heterozygotes》

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155.《Loss-of-Function Mutation in the Dioxygenase-Encoding FTO Gene Causes Severe Growth Retardation and Multiple Malformations》

genetics_thesis/040004249489.html

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156.《Genome-wide Study of Families with Absolute Pitch Reveals Linkage to 8q24.21 and Locus Heterogeneity》

genetics_thesis/040004249490.html

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157.《Mutation in Pyrroline-5-Carboxylate Reductase 1 Gene in Families with Cutis Laxa Type 2》

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158.《Gene Conversion between the X Chromosome and the Male-Specific Region of the Y Chromosome at a Translocation Hotspot》

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159.《This Month in The Journal》

genetics_thesis/040004249493.html

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160.《This Month in Genetics》

genetics_thesis/040004249494.html

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161.《Fixing Sex: Intersex, Medical Authority, and Lived Experience》

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162.《Mutations in NDUFAF3 (C3ORF60), Encoding an NDUFAF4 (C6ORF66)-Interacting Complex I Assembly Protein, Cause Fatal Neonatal Mitochondrial Disease》

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163.《Mutation of a Gene Essential for Ribosome Biogenesis, EMG1, Causes Bowen-Conradi Syndrome》

genetics_thesis/040004249497.html

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164.《Correcting for Purifying Selection: An Improved Human Mitochondrial Molecular Clock》

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165.《Mutations in the Heparan-Sulfate Proteoglycan Glypican 6 (GPC6) Impair Endochondral Ossification and Cause Recessive Omodysplasia》

genetics_thesis/040004249499.html

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166.《X Chromosome Inactivation Is Initiated in Human Preimplantation Embryos》

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167.《Genomic and Genic Deletions of the FOX Gene Cluster on 16q24.1 and Inactivating Mutations of FOXF1 Cause Alveolar Capillary Dysplasia and Other Malformations》

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168.《Mutations in a BTB-Kelch Protein, KLHL7, Cause Autosomal-Dominant Retinitis Pigmentosa》

genetics_thesis/040004249502.html

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169.《The Primordial Growth Disorder 3-M Syndrome Connects Ubiquitination to the Cytoskeletal Adaptor OBSL1》

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170.《Copy-Number Mutations on Chromosome 17q24.2-q24.3 in Congenital Generalized Hypertrichosis Terminalis with or without Gingival Hyperplasia》

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171.《Mitochondrial Haplogroup U5b3: A Distant Echo of the Epipaleolithic in Italy and the Legacy of the Early Sardinians》

genetics_thesis/040004249505.html

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172.《A Multiplex Human Syndrome Implicates a Key Role for Intestinal Cell Kinase in Development of Central Nervous, Skeletal, and Endocrine Systems》

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173.《This Month in The Journal》

genetics_thesis/040004249507.html

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174.《This Month in Genetics》

genetics_thesis/040004249508.html

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175.《A Nonsense Mutation in COQ9 Causes Autosomal-Recessive Neonatal-Onset Primary Coenzyme Q10 Deficiency: A Potentially Treatable Form of Mitochondrial Disease》

genetics_thesis/040004249509.html

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176.《Genetic Effects on Environmental Vulnerability to Disease》

genetics_thesis/040004249510.html

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177.《Multilocus Bayesian Meta-Analysis of Gene-Disease Associations》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004249511.html

178.《Genome-wide Association Analysis Identifies PDE4D as an Asthma-Susceptibility Gene》

genetics_thesis/040004249512.html

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

179.《The Mitochondrial Disulfide Relay System Protein GFER Is Mutated in Autosomal-Recessive Myopathy with Cataract and Combined Respiratory-Chain Deficiency》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004249513.html

180.《Human RAD50 Deficiency in a Nijmegen Breakage Syndrome-like Disorder》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004249514.html

181.《Mutations in Smooth Muscle Alpha-Actin (ACTA2) Cause Coronary Artery Disease, Stroke, and Moyamoya Disease, Along with Thoracic Aortic Disease》

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182.《The Diversity Present in 5140 Human Mitochondrial Genomes》

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183.《Genome-wide Insights into the Patterns and Determinants of Fine-Scale Population Structure in Humans》

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