《American Journal of Human Genetics》期刊第65页
200条数据
https://www.zhangqiaokeyan.com/american-journal-human-genetics
1.《Common Risk Alleles for Inflammatory Diseases Are Targets of Recent Positive Selection》
原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004250535.html
2.《Complete Haplotype Sequence of the Human Immunoglobulin Heavy-Chain Variable, Diversity, and Joining Genes and Characterization of Allelic and Copy-Number Variation》
原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004250536.html
3.《The Benefits of Using Genetic Information to Design Prevention Trials》
原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004250537.html
4.《Improving the Accuracy and Efficiency of Partitioning Heritability into the Contributions of Genomic Regions》
genetics_thesis/040004250538.html
原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-
5.《Mutations in WNT1 Cause Different Forms of Bone Fragility》
genetics_thesis/040004250539.html
原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-
6.《Hypomorphic Mutations in PGAP2, Encoding a GPI-Anchor-Remodeling Protein, Cause Autosomal-Recessive Intellectual Disability》
原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004250540.html
7.《PGAP2 Mutations, Affecting the GPI-Anchor-Synthesis Pathway, Cause Hyperphosphatasia with Mental Retardation Syndrome》
genetics_thesis/040004250541.html
原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-
8.《WNT1 Mutations in Families Affected by Moderately Severe and Progressive Recessive Osteogenesis Imperfecta》
原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004250542.html
9.《Mutations in EOGT Confirm the Genetic Heterogeneity of Autosomal-Recessive Adams-Oliver Syndrome》
genetics_thesis/040004250543.html
原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-
10.《Perrault Syndrome Is Caused by Recessive Mutations in CLPP, Encoding a Mitochondrial ATP-Dependent Chambered Protease》
原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004250544.html
11.《Mutations in LARS2, Encoding Mitochondrial Leucyl-tRNA Synthetase, Lead to Premature Ovarian Failure and Hearing Loss in Perrault Syndrome》
原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004250545.html
12.《Mutations in KCTD1 Cause Scalp-Ear-Nipple Syndrome》
genetics_thesis/040004250546.html
原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-
13.《Deficiency in SLC25A1, Encoding the Mitochondrial Citrate Carrier, Causes Combined D-2- and L-2-Hydroxyglutaric Aciduria》
genetics_thesis/040004250547.html
原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-
14.《Mosaicism of the UDP-Galactose Transporter SLC35A2 Causes a Congenital Disorder of Glycosylation》
原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004250548.html
15.《Enhanced Maternal Origin of the 22q11.2 Deletion in Velocardiofacial and DiGeorge Syndromes》
genetics_thesis/040004250549.html
原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-
16.《An African American Paternal Lineage Adds an Extremely Ancient Root to the Human Y Chromosome Phylogenetic Tree》
原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004250550.html
17.《This Month in The Journal》
原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004250551.html
18.《This Month in Genetics》
genetics_thesis/040004250552.html
原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-
19.《2012 ASHG Awards and Addresses》
genetics_thesis/040004250553.html
原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-
20.《2012 Presidential Address: The Scientist as a Citizen of the World》
原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004250554.html
21.《2012 William Allan Award Introduction: Uta Francke》
genetics_thesis/040004250555.html
原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-
22.《2012 William Allan Award: Adventures in Cytogenetics》
原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004250556.html
23.《2012 Introduction to the Curt Stern Award: Jay Shendure》
genetics_thesis/040004250557.html
原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-
24.《2012 Curt Stern Award Address》
原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004250558.html
25.《Large C9orf72 Hexanucleotide Repeat Expansions Are Seen in Multiple Neurodegenerative Syndromes and Are More Frequent Than Expected in the UK Population》
原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004250559.html
26.《Mutations in B3GALNT2 Cause Congenital Muscular Dystrophy and Hypoglycosylation of α-Dystroglycan》
原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004250560.html
27.《ADAMTS7 Cleavage and Vascular Smooth Muscle Cell Migration Is Affected by a Coronary-Artery-Disease-Associated Variant》
genetics_thesis/040004250561.html
原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-
28.《Molecular Analysis of a Deletion Hotspot in the NRXN1 Region Reveals the Involvement of Short Inverted Repeats in Deletion CNVs》
原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004250562.html
29.《Mutations in C12orf57 Cause a Syndromic Form of Colobomatous Microphthalmia》
原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004250563.html
30.《Whole-Exome Sequencing Identifies Mutated C12orf57 in Recessive Corpus Callosum Hypoplasia》
genetics_thesis/040004250564.html
原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-
31.《Mutations in MED12 Cause X-Linked Ohdo Syndrome》
原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004250565.html
32.《Age-Dependent Association between Pulmonary Tuberculosis and Common TOX Variants in the 8q12–13 Linkage Region》
原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004250566.html
33.《Mutations in C10orf11, a Melanocyte-Differentiation Gene, Cause Autosomal-Recessive Albinism》
原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004250567.html
34.《Exome Sequencing Identifies GNB4 Mutations as a Cause of Dominant Intermediate Charcot-Marie-Tooth Disease》
genetics_thesis/040004250568.html
原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-
35.《ACTN1 Mutations Cause Congenital Macrothrombocytopenia》
原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004250569.html
36.《Enhanced Maternal Origin of the 22q11.2 Deletion in Velocardiofacial and DiGeorge Syndromes》
genetics_thesis/040004250570.html
原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-
37.《Constitutional Mutations in RTEL1 Cause Severe Dyskeratosis Congenita》
原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004250571.html
38.《An African American Paternal Lineage Adds an Extremely Ancient Root to the Human Y Chromosome Phylogenetic Tree》
原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004250572.html
39.《A CpG Mutational Hotspot in a ONECUT Binding Site Accounts for the Prevalent Variant of Hemophilia B Leyden》
genetics_thesis/040004250573.html
原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-
40.《Mutations in LAMB1 Cause Cobblestone Brain Malformation without Muscular or Ocular Abnormalities》
genetics_thesis/040004250574.html
原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-
41.《This Month in The Journal》
原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004250575.html
42.《This Month in Genetics》
genetics_thesis/040004250576.html
原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-
43.《Noninvasive Detection of Fetal Subchromosome Abnormalities via Deep Sequencing of Maternal Plasma》
原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004250577.html
44.《Common Genetic Risk Factors for Venous Thrombosis in the Chinese Population》
原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004250578.html
45.《Somatic Uniparental Isodisomy Explains Multifocality of Glomuvenous Malformations》
原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-genetics_thesis/040004250579.html
46.《Improved Detection of Common Variants Associated with Schizophrenia by Leveraging Pleiotropy with Cardiovascular-Disease Risk Factors》
genetics_thesis/040004250580.html
原文链接:https://www.zhangqiaokeyan.com/academic-journal-foreign-pmc_american-journal-human-