《AmericanJournalofHumanGenetics》期刊第54页199条数据 

《American Journal of Human Genetics》期刊第54页

199条数据

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

1.《Use of the Term “Antley-Bixler Syndrome”: Minimizing Confusion》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004248335.html

2.《“Antley-Bixler Syndrome”—A Reply to Cragun and Hopkin》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004248336.html

3.《LRRK2 Haplotype Analyses in European and North African Families with Parkinson Disease: A Common Founder for the G2019S Mutation Dating from the 13th Century》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004248337.html

4.《Guide to Mutation Detection.》

genetics_thesis/040004248338.html

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

5.《Erratum》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004248340.html

6.《This Month in the Journal》

genetics_thesis/040004248341.html

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

7.《Identifying Novel Genes for Atherosclerosis through Mouse-Human Comparative Genetics》

genetics_thesis/040004248342.html

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

8.《Biotin-Responsive Basal Ganglia Disease Maps to 2q36.3 and Is Due to Mutations in SLC19A3》

genetics_thesis/040004248343.html

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

9.《An Entropy-Based Statistic for Genomewide Association Studies》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004248344.html

10.《Allan-Herndon-Dudley Syndrome and the Monocarboxylate Transporter 8 (MCT8) Gene》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004248345.html

11.《Mutations in PIP5K3 Are Associated with Fran?ois-Neetens Mouchetée Fleck Corneal Dystrophy》

genetics_thesis/040004248346.html

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

12.《Polymorphisms within the C-Reactive Protein (CRP) Promoter Region Are Associated with Plasma CRP Levels》

genetics_thesis/040004248347.html

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

13.《Segmental Duplications and Copy-Number Variation in the Human Genome》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004248348.html

14.《Identification of a Major Recombination Hotspot in Patients with Short Stature and SHOX Deficiency》

genetics_thesis/040004248349.html

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

15.《A Powerful and Robust Method for Mapping Quantitative Trait Loci in General Pedigrees》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004248350.html

16.《Germline Susceptibility to Colorectal Cancer Due to Base-Excision Repair Gene Defects》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004248351.html

17.《Homozygous Nonsense Mutations in KIAA1279 Are Associated with Malformations of the Central and Enteric Nervous Systems》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004248352.html

18.《Disentangling Fetal and Maternal Susceptibility for Pre-Eclampsia: A British Multicenter Candidate-Gene Study》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004248353.html

19.《Mapping of a Single Locus Capable of Complementing the Defective Heterochromatin Phenotype of Roberts Syndrome Cells》

genetics_thesis/040004248354.html

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

20.《Genetic Variation in the Human Androgen Receptor Gene Is the Major Determinant of Common Early-Onset Androgenetic Alopecia》

genetics_thesis/040004248355.html

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

21.《Strong Association of the Y402H Variant in Complement Factor H at 1q32 with Susceptibility to Age-Related Macular Degeneration》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004248356.html

22.《3q29 Microdeletion Syndrome: Clinical and Molecular Characterization of a New Syndrome》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004248357.html

23.《Characterization of a New Syndrome That Associates Craniosynostosis, Delayed Fontanel Closure, Parietal Foramina, Imperforate Anus, and Skin Eruption: CDAGS》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004248358.html

24.《Announcements》

genetics_thesis/040004248359.html

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

25.《This Month in the Journal》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004248360.html

26.《Single-Gene Disorders: What Role Could Moonlighting Enzymes Play?》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004248361.html

27.《A Genomewide Exploration Suggests a New Candidate Gene at

Chromosome 11q23 as the Major Determinant of Plasma Homocysteine Levels: Results from the GAIT Project》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004248362.html

28.《Joint Modeling of Linkage and Association: Identifying SNPs Responsible for a Linkage Signal》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004248363.html

29.《Candidate-Gene Screening and Association Analysis at the Autism-Susceptibility Locus on Chromosome 16p: Evidence of Association at GRIN2A and ABAT》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004248364.html

30.《Rational Inferences about Departures from Hardy-Weinberg Equilibrium》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004248365.html

31.《Alternative Splicing Suggests Extended Function of PEX26 in Peroxisome Biogenesis》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004248366.html

32.《Heterozygous Mutations of OTX2 Cause Severe Ocular Malformations》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004248367.html

33.《Germline BHD-Mutation Spectrum and Phenotype Analysis of a Large Cohort of Families with Birt-Hogg-Dubé Syndrome》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004248368.html

34.《Fatal Congenital Heart Glycogenosis Caused by a Recurrent Activating R531Q Mutation in the γ2-Subunit of AMP-Activated Protein Kinase (PRKAG2), Not by Phosphorylase Kinase Deficiency》

genetics_thesis/040004248369.html

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

35.《Replication of Autism Linkage: Fine-Mapping Peak at 17q21》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004248370.html

36.《A Novel Linkage to Generalized Vitiligo on 4q13-q21 Identified in a Genomewide Linkage Analysis of Chinese Families》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004248371.html

37.《In Silico Analysis of Disease-Association Mapping Strategies Using the Coalescent Process and Incorporating Ascertainment and Selection》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004248372.html

38.《Identification of FOXP2 Truncation as a Novel Cause of Developmental Speech and Language Deficits》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004248373.html

39.《Deficiency of the ADP-Forming Succinyl-CoA Synthase Activity Is Associated with Encephalomyopathy and Mitochondrial DNA Depletion》

genetics_thesis/040004248374.html

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

40.《Human Evolutionary Genetics: Origins, Peoples and Disease.》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004248375.html

41.《Facioscapulohumeral Muscular Dystrophy: Clinical Medicine and Molecular Cell Biology.》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004248376.html

42.《Erratum》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004248378.html

43.《This Month in the Journal》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004248379.html

44.《Autosomal Recessive Primary Microcephaly (MCPH): A Review of Clinical, Molecular, and Evolutionary Findings》

原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004248380.html

45.《Diversity and Function of Mutations in P450 Oxidoreductase in Patients with Antley-Bixler Syndrome and Disordered Steroidogenesis》

genetics_thesis/040004248381.html

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