loading《American Journal of Human Genetics》期刊第67页
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1.《Acrofacial Dysostosis, Cincinnati Type, a Mandibulofacial Dysostosis Syndrome with Limb Anomalies, Is Caused by POLR1A Dysfunction》
原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004250935.html
2.《The Kalash Genetic Isolate: Ancient Divergence, Drift, and Selection》
原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004250936.html
3.《A Potential Contributory Role for Ciliary Dysfunction in the 16p11.2 600 kb BP4-BP5 Pathology》
genetics_thesis/040004250937.html
原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-
4.《Testing in Microbiome-Profiling Studies with MiRKAT, the Microbiome Regression-Based Kernel Association Test》
genetics_thesis/040004250938.html
原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-
5.《Mutations in the GABA Transporter SLC6A1 Cause Epilepsy with Myoclonic-Atonic Seizures》
原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004250939.html
6.《Mutations Impairing GSK3-Mediated MAF Phosphorylation Cause Cataract, Deafness, Intellectual Disability, Seizures, and a Down Syndrome-like Facies》
原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004250940.html
7.《Biallelic Mutations of Methionyl-tRNA Synthetase Cause a Specific Type of Pulmonary Alveolar Proteinosis Prevalent on Réunion Island》
genetics_thesis/040004250941.html
原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-
8.《Low-Frequency Coding Variants at 6p21.33 and 20q11.21 Are Associated with Lung Cancer Risk in Chinese Populations》
原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004250942.html
9.《Autosomal-Dominant Multiple Pterygium Syndrome Is Caused by Mutations in MYH3》
原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004250943.html
10.《IDS Crossing of the Blood-Brain Barrier Corrects CNS Defects in MPSII Mice》
原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004250944.html
11.《HLA-DPB1 and HLA Class I Confer Risk of and Protection from Narcolepsy》
原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004250945.html
12.《This Month in The Journal》
原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004250946.html
13.《This Month in Genetics》
genetics_thesis/040004250947.html
原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-
14.《Mutations in the Endothelin Receptor Type A Cause Mandibulofacial Dysostosis with Alopecia》
原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004250948.html
15.《Meta-analysis of 65,734 Individuals Identifies TSPAN15 and SLC44A2 as Two Susceptibility Loci for Venous Thromboembolism》
genetics_thesis/040004250949.html
原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-
16.《A Statistical Approach for Rare-Variant Association Testing in Affected Sibships》
原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004250950.html
17.《Absence of Heterozygosity Due to Template Switching during Replicative Rearrangements》
原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004250951.html
18.《A Large-Scale Genetic Analysis Reveals a Strong Contribution of the HLA Class II Region to Giant Cell Arteritis Susceptibility》
原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004250952.html
19.《Functional Loss of Semaphorin 3C and/or Semaphorin 3D and Their Epistatic Interaction with Ret Are Critical to Hirschsprung Disease Liability》
原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004250953.html
20.《Genomic Analyses Reveal Mutational Signatures and Frequently Altered Genes in Esophageal Squamous Cell Carcinoma》
genetics_thesis/040004250954.html
原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-
21.《DVL1 Frameshift Mutations Clustering in the Penultimate Exon Cause Autosomal-Dominant Robinow Syndrome》
genetics_thesis/040004250955.html
原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-
22.《Mutations in DVL1 Cause an Osteosclerotic Form of Robinow Syndrome》
原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004250956.html
23.《Submicroscopic Deletions at 13q32.1 Cause Congenital Microcoria》
原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004250957.html
24.《Mutations in NDUFB11, Encoding a Complex I Component of the
Mitochondrial Respiratory Chain, Cause Microphthalmia with Linear Skin Defects Syndrome》
原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004250958.html
25.《Chromothripsis in Healthy Individuals Affects Multiple Protein-Coding Genes and Can Result in Severe Congenital Abnormalities in Offspring》
genetics_thesis/040004250959.html
原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-
26.《Mutations in HPCA Cause Autosomal-Recessive Primary Isolated Dystonia》
原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004250960.html