《AmericanJournalofHumanGenetics》期刊第48页200条数据 

140.《Mutations in Two Genes Encoding Different Subunits of a Receptor Signaling Complex Result in an Identical Disease Phenotype》

genetics_thesis/040004247274.html

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

141.《KCNJ2 Mutation Results in Andersen Syndrome with Sex-Specific Cardiac and Skeletal Muscle Phenotypes》

genetics_thesis/040004247275.html

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

142.《Evidence for the Role of PWCR1/HBII-85 C/D Box Small Nucleolar RNAs in Prader-Willi Syndrome》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004247276.html

143.《Identical Mitochondrial DNA Deletion in a Woman with Ocular Myopathy and in Her Son with Pearson Syndrome》

genetics_thesis/040004247277.html

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

144.《Theoretical Considerations Regarding the Study “Alpha-B Crystallin Gene (CRYAB) Mutation Causes Dominant Congenital Posterior Polar Cataract in Humans”》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004247278.html

145.《Reply to Veromann》

genetics_thesis/040004247279.html

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

146.《London Dysmorphology Database, London Neurogenetics Database & Dysmorphology Photo Library on CD-ROM.》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004247280.html

147.《Disorders of Voluntary Muscle,》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004247281.html

148.《Announcements》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004247282.html

149.《Erratum》

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150.《This Month in the Journal》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004247284.html

151.《Regression-Based Quantitative-Trait–Locus Mapping in the 21st Century》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004247285.html

152.《Premature Termination Mutations in FBN1: Distinct Effects on Differential Allelic Expression and on Protein and Clinical Phenotypes》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004247286.html

153.《Powerful Regression-Based Quantitative-Trait Linkage Analysis of General Pedigrees》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004247287.html

154.《Absence of Age Effect on Meiotic Recombination between Human X and Y Chromosomes》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004247288.html

155.《CDH23 Mutation and Phenotype Heterogeneity: A Profile of 107 Diverse Families with Usher Syndrome and Nonsyndromic Deafness》

genetics_thesis/040004247289.html

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

156.《Heterozygous Submicroscopic Inversions Involving Olfactory Receptor–Gene Clusters Mediate the Recurrent t(4;8)(p16;p23) Translocation》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004247290.html

157.《Species Differences in TSIX/Tsix Reveal the Roles of These Genes in X-Chromosome Inactivation》

genetics_thesis/040004247291.html

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

158.《Atypical 5′ Splice Sites Cause CFTR Exon 9 To Be Vulnerable to Skipping》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004247292.html

159.《Testing for Population Subdivision and Association in Four Case-Control Studies》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004247293.html

160.《A Comprehensive Analysis of Recently Integrated Human Ta L1 Elements》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004247294.html

161.《Evidence Consistent with Human L1 Retrotransposition in Maternal Meiosis I》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004247295.html

162.《Genetic Variation in the 6p22.3 Gene DTNBP1, the Human Ortholog of the Mouse Dysbindin Gene, Is Associated with Schizophrenia》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004247296.html

163.《Genome Scan for Loci Involved in Cleft Lip With or Without Cleft Palate, in Chinese Multiplex Families》

genetics_thesis/040004247297.html

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

164.《Comprehensive Detection of Genomic Duplications and Deletions in the DMD Gene, by Use of Multiplex Amplifiable Probe Hybridization》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004247298.html

165.《Molecular Characterization of the Pericentric Inversion That Causes

Differences Between Chimpanzee Chromosome 19 and Human Chromosome 17》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004247299.html

166.《Grouping of Multiple-Lentigines/LEOPARD and Noonan Syndromes on the PTPN11 Gene》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004247300.html

167.《Genetic Isolates in East Asia: A Study of Linkage Disequilibrium in the X Chromosome》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004247301.html

168.《A Genetic Locus for Adolescent Idiopathic Scoliosis Linked to Chromosome 19p13.3》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004247302.html

169.《Evidence that Griscelli Syndrome with Neurological Involvement Is Caused by Mutations in RAB27A, Not MYO5A》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004247303.html

170.《Analysis of Mitochondrial DNA Diversity in the Aleuts of the Commander Islands and Its Implications for the Genetic History of Beringia》

genetics_thesis/040004247304.html

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

171.《Mutations in the Cone Photoreceptor G-Protein α-Subunit Gene GNAT2 in Patients with Achromatopsia》

genetics_thesis/040004247305.html

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

172.《Mandibuloacral Dysplasia Is Caused by a Mutation in LMNA-Encoding Lamin A/C》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004247306.html

173.《A CHEK2 Genetic Variant Contributing to a Substantial Fraction of Familial Breast Cancer》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004247307.html

174.《A Note on the Calculation of Empirical P Values from Monte Carlo Procedures》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004247308.html

175.《Response to Epstein et al.》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004247309.html

176.《SNPs at the 3′ End of the Angiotensinogen Gene Define Two Haplotypes Associated with the Common 235Met Variant》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004247310.html

177.《Announcements》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004247311.html

178.《Erratum》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004247312.html

179.《Erratum》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004247313.html

180.《Erratum》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004247314.html

181.《This Month in the Journal》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004247315.html

182.《Splitting p63》

genetics_thesis/040004247316.html

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

183.《Mutation of a Nuclear Respiratory Factor 2 Binding Site in the 5′

Untranslated Region of the ADSL Gene in Three Patients with Adenylosuccinate Lyase Deficiency》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004247317.html

184.《BBS4 Is a Minor Contributor to Bardet-Biedl Syndrome and May Also Participate in Triallelic Inheritance》

genetics_thesis/040004247318.html

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

185.《Connection between Elastin Haploinsufficiency and Increased Cell Proliferation in Patients with Supravalvular Aortic Stenosis and Williams-Beuren Syndrome》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004247319.html

186.《A Major Susceptibility Locus for Specific Language Impairment Is Located on 13q21》