《AmericanJournalofHumanGenetics》期刊第60页200条数据 

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135.《Understanding FDA Regulation of DTC Genetic Tests within the Context of Administrative Law》

genetics_thesis/040004249669.html

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136.《Inference of Unexpected Genetic Relatedness among Individuals in HapMap Phase III》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004249670.html

137.《WDR11, a WD Protein that Interacts with Transcription Factor EMX1, Is Mutated in Idiopathic Hypogonadotropic Hypogonadism and Kallmann Syndrome》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004249671.html

138.《Correct mRNA Processing at a Mutant TT Splice Donor in FANCC Ameliorates the Clinical Phenotype in Patients and Is Enhanced by Delivery of Suppressor U1 snRNAs》

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139.《Identification of Copy Number Variation Hotspots in Human Populations》

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140.《Human Male Infertility Associated with Mutations in NR5A1 Encoding Steroidogenic Factor 1》

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141.《Mutations in the SPTLC2 Subunit of Serine Palmitoyltransferase Cause Hereditary Sensory and Autonomic Neuropathy Type I》

genetics_thesis/040004249675.html

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142.《A Mutation in SLC24A1 Implicated in Autosomal-Recessive Congenital Stationary Night Blindness》

genetics_thesis/040004249676.html

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143.《BMPER Mutation in Diaphanospondylodysostosis Identified by Ancestral Autozygosity Mapping and Targeted High-Throughput Sequencing》

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144.《Mutations Disrupting Selenocysteine Formation Cause Progressive Cerebello-Cerebral Atrophy》

genetics_thesis/040004249678.html

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145.《Adiponectin Concentrations: A Genome-wide Association Study》

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146.《Mutations in SCARF2 Are Responsible for Van Den Ende-Gupta Syndrome》

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147.《Compound Heterozygosity for Loss-of-Function Lysyl-tRNA Synthetase Mutations in a Patient with Peripheral Neuropathy》

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148.《Exome Sequencing in Brown-Vialetto-Van Laere Syndrome》

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149.《Response to Johnson et al.》

genetics_thesis/040004249683.html

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150.《FKBP10 and Bruck Syndrome: Phenotypic Heterogeneity or Call for Reclassification?》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004249684.html

151.《Mutations in the Gene Encoding the RER Protein FKBP65 Cause Autosomal-Recessive Osteogenesis Imperfecta》

genetics_thesis/040004249685.html

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152.《This Month in The Journal》

genetics_thesis/040004249686.html

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153.《This Month in Genetics》

genetics_thesis/040004249687.html

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154.《Genetic Self Knowledge and the Future of Epidemiologic Confounding》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004249688.html

155.《Fine-Scale Survey of X Chromosome Copy Number Variants and Indels Underlying Intellectual Disability》

genetics_thesis/040004249689.html

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156.《Distinct Effects of Allelic NFIX Mutations on Nonsense-Mediated mRNA Decay Engender Either a Sotos-like or a Marshall-Smith Syndrome》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004249690.html

157.《Mutations in IMPG2, Encoding Interphotoreceptor Matrix Proteoglycan 2, Cause Autosomal-Recessive Retinitis Pigmentosa》

genetics_thesis/040004249691.html

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158.《A Palindrome-Mediated Recurrent Translocation with 3:1 Meiotic Nondisjunction: The t(8;22)(q24.13;q11.21)》

genetics_thesis/040004249692.html

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159.《Haploinsufficiency of HDAC4 Causes Brachydactyly Mental Retardation Syndrome, with Brachydactyly Type E, Developmental Delays, and Behavioral Problems》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004249693.html

160.《Microdeletions of 3q29 Confer High Risk for Schizophrenia》

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161.《Detecting Heteroplasmy from High-Throughput Sequencing of Complete Human Mitochondrial DNA Genomes》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004249695.html

162.《Heterozygous Germline Mutations in the CBL Tumor-Suppressor Gene Cause a Noonan Syndrome-like Phenotype》

genetics_thesis/040004249696.html

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163.《Autosomal-Recessive Early-Onset Retinitis Pigmentosa Caused by a Mutation in PDE6G, the Gene Encoding the Gamma Subunit of Rod cGMP Phosphodiesterase》

genetics_thesis/040004249697.html

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

164.《Mutations in PVRL4, Encoding Cell Adhesion Molecule Nectin-4, Cause Ectodermal Dysplasia-Syndactyly Syndrome》

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165.《Loss of Corneodesmosin Leads to Severe Skin Barrier Defect, Pruritus, and Atopy: Unraveling the Peeling Skin Disease》

genetics_thesis/040004249699.html

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166.《Mutations in the DBP-Deficiency Protein HSD17B4 Cause Ovarian Dysgenesis, Hearing Loss, and Ataxia of Perrault Syndrome》

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167.《Homozygous Nonsense Mutations in TWIST2 Cause Setleis Syndrome》

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168.《Whole-Genome Genetic Diversity in a Sample of Australians with Deep Aboriginal Ancestry》

genetics_thesis/040004249702.html

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169.《FKBP10 and Bruck Syndrome: Phenotypic Heterogeneity or Call for Reclassification?》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004249703.html

170.《Response to Shaheen et al.》

genetics_thesis/040004249704.html

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171.《Mutations in HPSE2 Cause Urofacial Syndrome》

genetics_thesis/040004249705.html

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172.《Robust Replication of Genotype-Phenotype Associations across Multiple Diseases in an Electronic Medical Record》

genetics_thesis/040004249706.html

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

173.《This Month in The Journal》

genetics_thesis/040004249707.html

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174.《This Month in Genetics》

genetics_thesis/040004249708.html

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175.《IRF4 Variants Have Age-Specific Effects on Nevus Count and Predispose to Melanoma》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004249709.html

176.《Population Genetic Structure of the People of Qatar》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004249710.html

177.《X-Linked Cone Dystrophy Caused by Mutation of the Red and Green Cone Opsins》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004249711.html

178.《Mutations in Centrosomal Protein CEP152 in Primary Microcephaly Families Linked to MCPH4》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004249712.html

179.《Mutation of the Mitochondrial Tyrosyl-tRNA Synthetase Gene, YARS2, Causes Myopathy, Lactic Acidosis, and Sideroblastic Anemia—MLASA Syndrome》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004249713.html

180.《Differential Contributions of Rare and Common, Coding and Noncoding Ret Mutations to Multifactorial Hirschsprung Disease Liability》