《AmericanJournalofHumanGenetics》期刊第55页200条数据 

48.《Oligonucleotide Microarray Analysis of Genomic Imbalance in Children with Mental Retardation》

genetics_thesis/040004248582.html

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

49.《Molecular Characterization of Loss-of-Function Mutations in PCSK9 and Identification of a Compound Heterozygote》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004248583.html

50.《Meiotic Recombination and Spatial Proximity in the Etiology of the Recurrent t(11;22)》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004248584.html

51.《An Expectation-Maximization Algorithm for the Analysis of Allelic Expression Imbalance》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004248585.html

52.《Navajo Neurohepatopathy Is Caused by a Mutation in the MPV17 Gene》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004248586.html

53.《UBE2A, Which Encodes a Ubiquitin-Conjugating Enzyme, Is Mutated in a Novel X-Linked Mental Retardation Syndrome》

genetics_thesis/040004248587.html

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

54.《Mutations in the CEP290 (NPHP6) Gene Are a Frequent Cause of Leber Congenital Amaurosis》

genetics_thesis/040004248588.html

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

55.《Peters Plus Syndrome Is Caused by Mutations in B3GALTL, a Putative Glycosyltransferase》

genetics_thesis/040004248589.html

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

56.《Monte Carlo Pedigree Disequilibrium Test for Markers on the X Chromosome》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004248590.html

57.《Mutations in the Gene KCNV2 Encoding a Voltage-Gated Potassium Channel Subunit Cause “Cone Dystrophy with Supernormal Rod Electroretinogram” in Humans》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004248591.html

58.《Genomewide Scan for Nonsyndromic Cleft Lip and Palate in

Multigenerational Indian Families Reveals Significant Evidence of Linkage at 13q33.1-34》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004248592.html

59.《Schizophrenia and Oxidative Stress: Glutamate Cysteine Ligase Modifier as a Susceptibility Gene》

genetics_thesis/040004248593.html

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

60.《Deletion of PTEN and BMPR1A on Chromosome 10q23 Is Not Always Associated with Juvenile Polyposis of Infancy》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004248594.html

61.《Reply to Salviati et al.》

genetics_thesis/040004248595.html

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

62.《The Annual Meeting: From Conception to Birth》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004248596.html

63.《Announcements》

genetics_thesis/040004248597.html

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

64.《This Month in the Journal》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004248598.html

65.《Reconstructing Genetic Ancestry Blocks in Admixed Individuals》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004248599.html

66.《Mapping Tumor-Suppressor Genes with Multipoint Statistics from Copy-Number–Variation Data》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004248600.html

67.《Distinct Expression Profiles for PTEN Transcript and Its Splice Variants in Cowden Syndrome and Bannayan-Riley-Ruvalcaba Syndrome》

genetics_thesis/040004248601.html

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

68.《High Incidence of Later-Onset Fabry Disease Revealed by Newborn Screening》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004248602.html

69.《Human Genomic Deletions Mediated by Recombination between Alu Elements》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004248603.html

70.《Comprehensive Association Testing of Common Mitochondrial DNA Variation in Metabolic Disease》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004248604.html

71.《Using Genomic Inbreeding Coefficient Estimates for Homozygosity Mapping of Rare Recessive Traits: Application to Taybi-Linder Syndrome》

genetics_thesis/040004248605.html

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

72.《Intra- and Interindividual Epigenetic Variation in Human Germ Cells》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004248606.html

73.《Trait Components Provide Tools to Dissect the Genetic Susceptibility of Migraine》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004248607.html

74.《Bayesian Graphical Models for Genomewide Association Studies》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004248608.html

75.《Disruption of POF1B Binding to Nonmuscle Actin Filaments Is Associated with Premature Ovarian Failure》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004248609.html

76.《Genetic Variation in the CCL18-CCL3-CCL4 Chemokine Gene Cluster Influences HIV Type 1 Transmission and AIDS Disease Progression》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004248610.html

77.《Germline Missense Mutations Affecting KRAS Isoform B Are Associated with a Severe Noonan Syndrome Phenotype》

genetics_thesis/040004248611.html

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

78.《DSG2 Mutations Contribute to Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy》

genetics_thesis/040004248612.html

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

79.《Double Inactivation of NF1 in Tibial Pseudarthrosis》

genetics_thesis/040004248613.html

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

80.《ELMOD2 Is a Candidate Gene for Familial Idiopathic Pulmonary Fibrosis》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004248614.html

81.《Increased DNA Methylation at the AXIN1 Gene in a Monozygotic Twin from a Pair Discordant for a Caudal Duplication Anomaly》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004248615.html

82.《Familial Osteoarthritis of the Hip Joint Associated with Acetabular Dysplasia Maps to Chromosome 13q》

genetics_thesis/040004248616.html

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

83.《NOTCH2 Mutations Cause Alagille Syndrome, a Heterogeneous Disorder of the Notch Signaling Pathway》

genetics_thesis/040004248617.html

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

84.《Expression of GJB2 and GJB6 Is Reduced in a Novel DFNB1 Allele》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004248618.html

85.《Single-Nucleotide Polymorphism rs498055 on Chromosome 10q24 Is Not Associated with Alzheimer Disease in Two Independent Family Samples》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004248619.html

86.《Reply to Bertram et al.》

genetics_thesis/040004248620.html

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

87.《The SERPINE2 Gene and Chronic Obstructive Pulmonary Disease》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004248621.html

88.《Reply to Chappell et al.》

genetics_thesis/040004248622.html

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

89.《The Advocates Training Partnership Program》

genetics_thesis/040004248623.html

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

90.《Announcements》

genetics_thesis/040004248624.html

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

91.《This Month in the Journal》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004248625.html

92.《Perspectives in Human Genetics》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004248626.html

93.《To Reveal the Genomes》

genetics_thesis/040004248627.html

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

94.《The Alexander Disease–Causing Glial Fibrillary Acidic Protein Mutant, R416W, Accumulates into Rosenthal Fibers by a Pathway That Involves Filament Aggregation and the Association of αB-Crystallin and HSP27》

genetics_thesis/040004248628.html

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

95.《Evidence That Translation Reinitiation Leads to a Partially Functional Menkes Protein Containing Two Copper-Binding Sites》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004248629.html