《AmericanJournalofHumanGenetics》期刊第23页199条数据 

93.《Identification of the base-pair substitution responsible for a human acid alpha glucosidase allele with lower \gene expression in deficient cells.》

genetics_thesis/040004242229.html

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

94.《Mutations causing hemophilia B: direct estimate of the underlying rates of spontaneous germ-line transitions, transversions, and deletions in a human gene.》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004242230.html

95.《Allan-Herndon syndrome. I. Clinical studies.》

genetics_thesis/040004242231.html

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

96.《Sample-size guidelines for linkage analysis of a dominant locus for a quantitative trait by the method of lod scores.》

genetics_thesis/040004242232.html

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

97.《Allan-Herndon syndrome. II. Linkage to DNA markers in Xq21.》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004242233.html

98.《Friedreich ataxia in Italian families: Genetic homogeneity and linkage disequilibrium with the marker loci D9S5 and D9S15》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004242234.html

99.《Human chromosome 5 complements the DNA double-strand break-repair deficiency and gamma-ray sensitivity of the XR-1 hamster variant.》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004242235.html

100.《Molecular definition of a region of chromosome 21 that causes features of the Down syndrome phenotype》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004242236.html

101.《Monte Carlo comparison of preliminary methods for ordering multiple genetic loci.》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004242237.html

102.《A multivariate method for detecting genetic linkage, with application to a pedigree with an adverse lipoprotein phenotype.》

genetics_thesis/040004242238.html

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

103.《Genes for two autosomal recessive forms of chronic granulomatous disease assigned to 1q25 (NCF2) and 7q11.23 (NCF1).》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004242239.html

104.《Joint estimation of recombination fractions and interference coefficients in multilocus linkage analysis.》

genetics_thesis/040004242240.html

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

105.《The isochromosome 18p syndrome: confirmation of cytogenetic diagnosis in nine cases by in situ hybridization.》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004242241.html

106.《Effective testing of gene-disease associations.》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004242242.html

107.《Application of DNA fingerprints for cell-line individualization.》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004242243.html

108.《Gaucher disease type III (Norrbottnian type) is caused by a single mutation in exon 10 of the glucocerebrosidase gene.》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004242244.html

109.《HLA-DQα allele and genotype frequencies in various human populations determined by using enzymatic amplification and oligonucleotide probes》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004242245.html

110.《Insertion of an extra codon for threonine is a cause of dihydropteridine reductase deficiency.》

genetics_thesis/040004242246.html

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

111.《Exclusion of a schizophrenia susceptibility gene from the chromosome 5q11-q13 region: new data and a reanalysis of previous reports.》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004242247.html

112.《Pyruvate dehydrogenase deficiency caused by deletion of a 7-bp repeat sequence in the E1 alpha gene.》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004242248.html

113.《Linkage to D3S47 (C17) in one large autosomal dominant retinitis pigmentosa family and exclusion in another: confirmation of genetic heterogeneity.》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004242249.html

114.《Participation of Indo-European tribes in ethnogeny of the mongoloid population of Siberia: analysis of the HLA antigen distribution in mongoloids of Siberia.》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004242250.html

115.《Combined segregation and linkage analysis of genetic hemochromatosis using affection status, serum iron, and HLA.》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004242251.html

116.《Genetic epidemiology of hereditary tyrosinemia in Quebec and in Saguenay-Lac-St-Jean.》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004242252.html

117.《Synaptophysin: structure of the human gene and assignment to the X chromosome in man and mouse.》

genetics_thesis/040004242253.html

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

118.《Different molecular basis for fumarylacetoacetate hydrolase deficiency in the two clinical forms of hereditary tyrosinemia (type I).》

genetics_thesis/040004242254.html

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

119.《Hereditary fructose intolerance caused by a nonsense mutation of the aldolase B gene.》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004242255.html

120.《Visceral pathology of hereditary tyrosinemia type I.》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004242256.html

121.《A new point mutation in the beta-hexosaminidase alpha subunit gene responsible for infantile Tay-Sachs disease in a non-Jewish Caucasian patient (a Kpn mutant).》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004242257.html

122.《Fumarylacetoacetase measurement as a mass-screening procedure for hereditary tyrosinemia type I.》

genetics_thesis/040004242258.html

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

123.《Molecular genetics of the glucose-6-phosphate dehydrogenase (G6PD) Mediterranean variant and description of a new G6PD mutant, G6PD Andalus1361A.》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004242259.html

124.《Oral loading of homogentisic acid in controls and in obligate heterozygotes for hereditary tyrosinemia type I.》

genetics_thesis/040004242260.html

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

125.《The ethics of cystic fibrosis carrier screening: where do we stand?》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004242261.html

126.《Gestational age at maternal serum alpha-fetoprotein screening and the detection of Down syndrome.》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004242262.html

127.《Liver transplantation for hereditary tyrosinemia: the Quebec experience.》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004242263.html

128.《Defining DNA diagnostic tests appropriate or standard clinical care.》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004242264.html

129.《1989 American society of human genetics social issues committee report》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004242265.html

130.《Reply to Waller et al》

genetics_thesis/040004242266.html

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

131.《American Society of Human Genetics membership survey results, 1989.》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004242267.html

132.《Appendectomy in Australian twins.》

genetics_thesis/040004242268.html

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

133.《Sex ratio among sperm cells.》

genetics_thesis/040004242269.html

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

134.《A likelihood-based analysis of consistent linkage of a disease locus to two nonsyntenic marker loci: osteogenesis imperfecta versus COL1A1 and COL1A2.》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004242270.html

135.《Progenitive sex ratio among functioning sperm cells.》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004242271.html

136.《Reply to Weeks》

genetics_thesis/040004242272.html

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

137.《The patent of a screening test.》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004242273.html

138.《Turner syndrome》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004242274.html

139.《Reply to Waurin》

genetics_thesis/040004242275.html

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