《AmericanJournalofHumanGenetics》期刊第23页199条数据

《American Journal of Human Genetics》期刊第23页

199条数据

https://www.zhangqiaokeyan.com/american-journal-human-genetics

1.《Nucleus-driven multiple large-scale deletions of the human mitochondrial genome: a new autosomal dominant disease.》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004242135.html

2.《Genetic linkage and heterogeneity in type I Charcot-Marie-Tooth disease (hereditary motor and sensory neuropathy type I).》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004242136.html

3.《Isolation of a marker linked to the Charcot-Marie-Tooth disease type IA gene by differential Alu-PCR of human chromosome 17-retaining hybrids.》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004242137.html

4.《Localization of the microsatellite probe DXS426 between DXS7 and DXS255 on Xp and linkage to X-linked retinitis pigmentosa.》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004242138.html

5.《Autosomal dominant retinitis pigmentosa: Absence of the rhodopsin proline→histidine substitution (codon 23) in pedigrees from Europe》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004242139.html

6.《The mutation for medullary thyroid carcinoma with parathyroid tumors (MTC with PTs) is closely linked to the centromeric region of chromosome 10.》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004242140.html

7.《A new DNA marker (D10S94) very tightly linked to the multiple endocrine neoplasia type 2A (MEN2A) locus.》

genetics_thesis/040004242141.html

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

8.《Multipoint analysis of human quantitative genetic variation.》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004242142.html

9.《Analysis of DNA polymorphisms suggests that most de novo dup(21q) chromosomes in patients with Down syndrome are isochromosomes and not translocations.》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004242143.html

10.《Localization of the human angiogenin gene to chromosome band 14q11, proximal to the T cell receptor alpha/delta locus.》

genetics_thesis/040004242144.html

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

11.《Genetic linkage map of six polymorphic DNA markers around the gene for familial adenomatous polyposis on chromosome 5.》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004242145.html

12.《Replication patterns of the fragile X in heterozygous carriers: analysis by a BrdUrd antibody method.》

genetics_thesis/040004242146.html

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

13.《The human CYP2D locus associated with a common genetic defect in drug oxidation: a G1934----A base change in intron 3 of a mutant CYP2D6 allele results in an aberrant 3' splice recognition site.》

genetics_thesis/040004242147.html

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

14.《A termination mutant prevalent in Norwegian haplotype 7 phenylketonuria genes.》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004242148.html

15.《The NT 1311 polymorphism of G6PD: G6PD Mediterranean mutation may have originated independently in Europe and Asia.》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004242149.html

16.《Origin and spread of the glucose-6-phosphate dehydrogenase variant (G6PD-Mediterranean) in the Middle East.》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004242150.html

17.《Recombination between two 14-bp homologous sequences as the mechanism for gene deletion in factor IX Seattle 1.》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004242151.html

18.《Rapid detection of the hemoglobin C mutation by allele-specific polymerase chain reaction.》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004242152.html

19.《The slash sheet: a simple procedure for risk analysis in cystic fibrosis.》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004242153.html

20.《Family cell lines available for research.》

genetics_thesis/040004242154.html

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

21.《Re: Book review of New developments in biotechnology》

genetics_thesis/040004242155.html

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

22.《Progress in clinical and biological research, vol. 329: Multipoint mapping and linkage analysis based upon affected pedigree members: Genetic analysis workshop 6》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004242156.html

23.《Alkaline phosphatase (tissue-nonspecific isoenzyme) is a

phosphoethanolamine and pyridoxal-5'-phosphate ectophosphatase: normal and hypophosphatasia fibroblast study.》

genetics_thesis/040004242157.html

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

24.《Pseudohypophosphatasia: aberrant localization and substrate specificity of alkaline phosphatase in cultured skin fibroblasts.》

genetics_thesis/040004242158.html

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

25.《Identification of point mutations in the alpha-galactosidase A gene in classical and atypical hemizygotes with Fabry disease.》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004242159.html

26.《Splicing defect at the ornithine aminotransferase (OAT) locus in gyrate atrophy.》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004242160.html

27.《Deletion mapping of Aland Island eye disease to Xp21 between DXS67 (B24) and Duchenne muscular dystrophy.》

genetics_thesis/040004242161.html

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

28.《Chromosomal localization of the human alpha-L-iduronidase gene (IDUA) to 4p16.3.》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004242162.html

29.《Heterozygous mutations at the mut locus in fibroblasts with mut0

methylmalonic acidemia identified by polymerase-chain-reaction cDNA cloning.》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004242163.html

30.《More than one mutant allele causes infantile Tay-Sachs disease in French-Canadians》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004242164.html

31.《Equal parental origin of chromosome 22 losses in human sporadic meningioma: no evidence for genomic imprinting.》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004242165.html

32.《A human D1 dopamine receptor gene is located on chromosome 5 at q35.1 and identifies an EcoRI RFLP.》

genetics_thesis/040004242166.html

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

33.《The pattern of factor IX germ-line mutation in Asians is similar to that of Caucasians.》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004242167.html

34.《The probabilistic determination of identity-by-descent sharing for pairs of relatives from pedigrees.》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004242168.html

35.《Minisatellite allele diversification: the origin of rare alleles at the HRAS1 locus.》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004242169.html

36.《Further mapping of an ataxia-telangiectasia locus to the chromosome 11q23 region.》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004242170.html

37.《Diversity of some gene frequencies in European and Asian populations. V. Steep multilocus clines.》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004242171.html

38.《DNA typing in the forensic arena.》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004242172.html

39.《Parental origin of chromosome 22 alleles lost in meningioma.》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004242173.html

40.《Hexosaminidase--pseudodeficiency?》

genetics_thesis/040004242174.html

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

41.《Reply to Kappler et al》

genetics_thesis/040004242175.html

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

42.《Erratum》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004242176.html

43.《Making history.》

genetics_thesis/040004242177.html

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

44.《Carrier screening for cystic fibrosis.》