《AmericanJournalofHumanGenetics》期刊第45页200条数据 

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134.《Erratum》

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135.《Erratum》

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136.《This Month in the Journal》

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137.《In the Beginning…》

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138.《A New Millennium and a New Editor》

genetics_thesis/040004246672.html

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139.《Elevated Levels of FMR1 mRNA in Carrier Males: A New Mechanism of Involvement in the Fragile-X Syndrome》

genetics_thesis/040004246673.html

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140.《Familial Mental Retardation Syndrome ATR-16 Due to an Inherited Cryptic Subtelomeric Translocation, t(3;16)(q29;p13.3)》

genetics_thesis/040004246674.html

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141.《De Novo Facioscapulohumeral Muscular Dystrophy: Frequent Somatic Mosaicism, Sex-Dependent Phenotype, and the Role of Mitotic

Transchromosomal Repeat Interaction between Chromosomes 4 and 10》

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142.《Duplication of 7p11.2-p13, Including GRB10, in Silver-Russell Syndrome》

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143.《A Physical Map, Including a BAC/PAC Clone Contig, of the Williams-Beuren Syndrome–Deletion Region at 7q11.23》

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144.《Recombinational and Mutational Hotspots within the Human Lipoprotein Lipase Gene》

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145.《Mosaicism in von Hippel–Lindau Disease: Lessons from Kindreds with Germline Mutations Identified in Offspring with Mosaic Parents》

genetics_thesis/040004246679.html

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146.《Structure of the SLC7A7 Gene and Mutational Analysis of Patients Affected by Lysinuric Protein Intolerance》

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147.《NF1 Microdeletion Syndrome: Refined FISH Characterization of Sporadic and Familial Deletions with Locus-Specific Probes》

genetics_thesis/040004246681.html

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148.《High Prevalence of Pathogenic Mutations in Patients with Early-Onset Dementia Detected by Sequence Analyses of Four Different Genes》

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149.《Identification of a New Gene Locus for Adolescent Nephronophthisis, on Chromosome 3q22 in a Large Venezuelan Pedigree》

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150.《Fibrodysplasia Ossificans Progressiva, a Heritable Disorder of Severe Heterotopic Ossification, Maps to Human Chromosome 4q27-31》

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151.《Benign Hereditary Chorea of Early Onset Maps to Chromosome 14q》

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152.《Genetic Mapping of the Camurati-Engelmann Disease Locus to Chromosome 19q13.1-q13.3》

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153.《The Locus of a Novel Gene Responsible for Arrhythmogenic Right-Ventricular Dysplasia Characterized by Early Onset and High Penetrance Maps to Chromosome 10p12-p14》

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154.《A Cholesterol-Lowering Gene Maps to Chromosome 13q》

genetics_thesis/040004246688.html

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155.《Meiotic Segregation Analysis of RB1 Alleles in Retinoblastoma Pedigrees by Use of Single-Sperm Typing》

genetics_thesis/040004246689.html

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156.《Melanocortin-1 Receptor Polymorphisms and Risk of Melanoma: Is the Association Explained Solely by Pigmentation Phenotype?》

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157.《Microsatellite Polymorphism in the Heme Oxygenase-1 Gene Promoter Is Associated with Susceptibility to Emphysema》

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158.《The Number of Trait Loci in Late-Onset Alzheimer Disease》

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159.《Full-Genome Scan for Linkage in 50 Families Segregating the Bipolar Affective Disease Phenotype》

genetics_thesis/040004246693.html

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160.《Linkage Disequilibrium and Allele-Frequency Distributions for 114 Single-Nucleotide Polymorphisms in Five Populations》

genetics_thesis/040004246694.html

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161.《High Levels of Sequence Polymorphism and Linkage Disequilibrium at the Telomere of 12q: Implications for Telomere Biology and Human Evolution》

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162.《The Use of Case-Parent Triads to Study Joint Effects of Genotype and Exposure》

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163.《Geographic Patterns of mtDNA Diversity in Europe》

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164.《A General Test of Association for Quantitative Traits in Nuclear Families》

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165.《Laws Restricting Health Insurers' Use of Genetic Information: Impact on Genetic Discrimination》

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166.《Isoform-Specific Imprinting of the Human PEG1/MEST Gene》

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167.《This Month in the Journal》

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168.《Involvement of the HLXB9 Homeobox Gene in Currarino Syndrome》

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169.《A Novel Locus for Leber Congenital Amaurosis Maps to Chromosome 6q》

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170.《Methionine Adenosyltransferase I/III Deficiency: Novel Mutationsand Clinical Variations》

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171.《A Gene for an Autosomal Dominant Scleroatrophic Syndrome Predisposing to Skin Cancer (Huriez Syndrome) Maps to Chromosome 4q23》

genetics_thesis/040004246705.html

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172.《Exon Skipping in IVD RNA Processing in Isovaleric Acidemia Caused by Point Mutations in the Coding Region of the IVD Gene》

genetics_thesis/040004246706.html

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173.《Transmission-Ratio Distortion at Xp11.4-p21.1 in Type 1 Diabetes》

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174.《Autosomal Recessive Disorder Otospondylomegaepiphyseal Dysplasia Is Associated with Loss-of-Function Mutations in the COL11A2 Gene》

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175.《Predominance of the T14484C Mutation in French-Canadian Families with Leber Hereditary Optic Neuropathy Is Due to a Founder Effect》

genetics_thesis/040004246709.html

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176.《Mutations in the AIRE Gene: Effects on Subcellular Location and Transactivation Function of the Autoimmune Polyendocrinopathy-Candidiasis–Ectodermal Dystrophy Protein》

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177.《Testing for Linkage Disequilibrium, Maternal Effects, and Imprinting with (In)complete Case-Parent Triads, by Use of the Computer Program LEM》

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178.《Toward a Survey of Somatic Mutation of the NF1 Gene in Benign Neurofibromas of Patients with Neurofibromatosis Type 1》

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179.《Genetic Disorders of Human Sexual Development》

genetics_thesis/040004246713.html

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180.《Mutational Spectrum in the Δ7-Sterol Reductase Gene and Genotype-Phenotype Correlation in 84 Patients with Smith-Lemli-Opitz Syndrome》

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