Result Number | Material Type | Add to My Shelf Action | Record Details and Options |
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1 |
Material Type: Article
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Mutation in NSUN2, which Encodes an RNA Methyltransferase, Causes Autosomal-Recessive Intellectual DisabilityAmerican journal of human genetics, 2012-05, Vol.90 (5), p.856-863 [Peer Reviewed Journal]2012 The American Society of Human Genetics ;2015 INIST-CNRS ;Copyright © 2012 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved. ;Copyright Cell Press May 4, 2012 ;2012 The American Society of Human Genetics. Published by Elsevier Ltd. All right reserved. 2012 The American Society of Human Genetics ;ISSN: 0002-9297 ;EISSN: 1537-6605 ;DOI: 10.1016/j.ajhg.2012.03.023 ;PMID: 22541562 ;CODEN: AJHGAGFull text available |
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2 |
Material Type: Article
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Large Intragenic Deletion in DSTYK Underlies Autosomal-Recessive Complicated Spastic Paraparesis, SPG23American journal of human genetics, 2017-02, Vol.100 (2), p.364-370 [Peer Reviewed Journal]2017 The Authors ;Copyright © 2017 American Society of Human Genetics. Published by Elsevier Inc. All rights reserved. ;Copyright Cell Press Feb 2, 2017 ;2017 American Society of Human Genetics. 2017 American Society of Human Genetics ;ISSN: 0002-9297 ;EISSN: 1537-6605 ;DOI: 10.1016/j.ajhg.2017.01.014 ;PMID: 28157540Full text available |
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3 |
Material Type: Article
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Discovery and Fine Mapping of Serum Protein Loci through Transethnic Meta-analysisAmerican journal of human genetics, 2012-10, Vol.91 (4), p.744-753 [Peer Reviewed Journal]2015 INIST-CNRS ;Copyright © 2012 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved. ;Copyright Cell Press Oct 5, 2012 ;2012 The American Society of Human Genetics. Published by Elsevier Ltd. All right reserved. 2012 The American Society of Human Genetics ;ISSN: 0002-9297 ;EISSN: 1537-6605 ;DOI: 10.1016/j.ajhg.2012.08.021 ;PMID: 23022100 ;CODEN: AJHGAGFull text available |
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4 |
Material Type: Article
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Japanese Population Structure, Based on SNP Genotypes from 7003 Individuals Compared to Other Ethnic Groups: Effects on Population-Based Association StudiesAmerican journal of human genetics, 2008-10, Vol.83 (4), p.445-456 [Peer Reviewed Journal]2008 The American Society of Human Genetics ;2008 INIST-CNRS ;Copyright University of Chicago, acting through its Press Oct 10, 2008 ;2008 The American Society of Human Genetics. Published by Elsevier Ltd. All right reserved.. 2008 The American Society of Human Genetics ;ISSN: 0002-9297 ;EISSN: 1537-6605 ;DOI: 10.1016/j.ajhg.2008.08.019 ;PMID: 18817904 ;CODEN: AJHGAGFull text available |
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5 |
Material Type: Article
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Fast Principal-Component Analysis Reveals Convergent Evolution of ADH1B in Europe and East AsiaAmerican journal of human genetics, 2016-03, Vol.98 (3), p.456-472 [Peer Reviewed Journal]2016 The American Society of Human Genetics ;Copyright © 2016 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved. ;2016 by The American Society of Human Genetics. All rights reserved. 2016 The American Society of Human Genetics ;ISSN: 0002-9297 ;EISSN: 1537-6605 ;DOI: 10.1016/j.ajhg.2015.12.022 ;PMID: 26924531Full text available |
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6 |
Material Type: Article
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RFMix: A Discriminative Modeling Approach for Rapid and Robust Local-Ancestry InferenceAmerican journal of human genetics, 2013-08, Vol.93 (2), p.278-288 [Peer Reviewed Journal]2013 The American Society of Human Genetics ;Copyright © 2013 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved. ;Copyright Cell Press Aug 8, 2013 ;2013 The American Society of Human Genetics. Published by Elsevier Ltd. All right reserved. 2013 The American Society of Human Genetics ;ISSN: 0002-9297 ;EISSN: 1537-6605 ;DOI: 10.1016/j.ajhg.2013.06.020 ;PMID: 23910464Full text available |
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7 |
Material Type: Article
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Ancestral Origins and Genetic History of Tibetan HighlandersAmerican journal of human genetics, 2016-09, Vol.99 (3), p.580-594 [Peer Reviewed Journal]2016 American Society of Human Genetics ;Copyright © 2016 American Society of Human Genetics. Published by Elsevier Inc. All rights reserved. ;Copyright Cell Press Sep 1, 2016 ;2016 American Society of Human Genetics. 2016 American Society of Human Genetics ;ISSN: 0002-9297 ;EISSN: 1537-6605 ;DOI: 10.1016/j.ajhg.2016.07.002 ;PMID: 27569548Full text available |
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8 |
Material Type: Article
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Phylogeographic Analysis of Mitochondrial DNA in Northern Asian PopulationsAmerican journal of human genetics, 2007-11, Vol.81 (5), p.1025-1041 [Peer Reviewed Journal]2007 The American Society of Human Genetics ;Copyright University of Chicago, acting through its Press Nov 2007 ;2007 by The American Society of Human Genetics. All rights reserved. 2007 ;ISSN: 0002-9297 ;EISSN: 1537-6605 ;DOI: 10.1086/522933 ;PMID: 17924343Full text available |
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9 |
Material Type: Article
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Genome-wide Association Study Reveals Multiple Nasopharyngeal Carcinoma-Associated Loci within the HLA Region at Chromosome 6p21.3American journal of human genetics, 2009-08, Vol.85 (2), p.194-203 [Peer Reviewed Journal]2009 The American Society of Human Genetics ;Copyright University of Chicago, acting through its Press Aug 14, 2009 ;2009 The American Society of Human Genetics. Published by Elsevier Ltd. All right reserved.. 2009 The American Society of Human Genetics ;ISSN: 0002-9297 ;EISSN: 1537-6605 ;DOI: 10.1016/j.ajhg.2009.07.007 ;PMID: 19664746Full text available |
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10 |
Material Type: Article
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A unified framework for cross-population trait prediction by leveraging the genetic correlation of polygenic traitsAmerican journal of human genetics, 2021-04, Vol.108 (4), p.632-655 [Peer Reviewed Journal]2021 American Society of Human Genetics ;Copyright © 2021 American Society of Human Genetics. Published by Elsevier Inc. All rights reserved. ;2021 American Society of Human Genetics. 2021 American Society of Human Genetics ;ISSN: 0002-9297 ;EISSN: 1537-6605 ;DOI: 10.1016/j.ajhg.2021.03.002 ;PMID: 33770506Full text available |
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11 |
Material Type: Article
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Common Genetic Risk Factors for Venous Thrombosis in the Chinese PopulationAmerican journal of human genetics, 2013-02, Vol.92 (2), p.177-187 [Peer Reviewed Journal]2013 The American Society of Human Genetics ;Copyright © 2013 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved. ;Copyright Cell Press Feb 7, 2013 ;2013 The American Society of Human Genetics. Published by Elsevier Ltd. All right reserved. 2013 The American Society of Human Genetics ;ISSN: 0002-9297 ;EISSN: 1537-6605 ;DOI: 10.1016/j.ajhg.2012.12.013 ;PMID: 23332921Full text available |
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12 |
Material Type: Article
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Genome-wide Enrichment of De Novo Coding Mutations in Orofacial Cleft TriosAmerican journal of human genetics, 2020-07, Vol.107 (1), p.124-136 [Peer Reviewed Journal]2020 American Society of Human Genetics ;Copyright © 2020 American Society of Human Genetics. Published by Elsevier Inc. All rights reserved. ;2020 American Society of Human Genetics. 2020 American Society of Human Genetics ;ISSN: 0002-9297 ;EISSN: 1537-6605 ;DOI: 10.1016/j.ajhg.2020.05.018 ;PMID: 32574564Full text available |
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13 |
Material Type: Article
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Analysis of Genomic Admixture in Uyghur and Its Implication in Mapping StrategyAmerican journal of human genetics, 2008-04, Vol.82 (4), p.883-894 [Peer Reviewed Journal]2008 The American Society of Human Genetics ;2008 INIST-CNRS ;Copyright University of Chicago, acting through its Press Apr 11, 2008 ;2008 The American Society of Human Genetics. Published by Elsevier Ltd. All right reserved.. 2008 The American Society of Human Genetics ;ISSN: 0002-9297 ;EISSN: 1537-6605 ;DOI: 10.1016/j.ajhg.2008.01.017 ;PMID: 18355773 ;CODEN: AJHGAGFull text available |
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14 |
Material Type: Article
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Gain-of-Function Mutations in SCN11A Cause Familial Episodic PainAmerican journal of human genetics, 2013-11, Vol.93 (5), p.957-966 [Peer Reviewed Journal]2013 The American Society of Human Genetics ;Copyright © 2013 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved. ;Copyright Cell Press Nov 7, 2013 ;2013 The American Society of Human Genetics. Published by Elsevier Ltd. All right reserved. 2013 The American Society of Human Genetics ;ISSN: 0002-9297 ;EISSN: 1537-6605 ;DOI: 10.1016/j.ajhg.2013.09.016 ;PMID: 24207120Full text available |
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15 |
Material Type: Article
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Mutations in KLHL40 Are a Frequent Cause of Severe Autosomal-Recessive Nemaline MyopathyAmerican journal of human genetics, 2013-07, Vol.93 (1), p.6-18 [Peer Reviewed Journal]2013 The American Society of Human Genetics ;Copyright © 2013 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved. ;Copyright Cell Press Jul 11, 2013 ;2013 The American Society of Human Genetics. Published by Elsevier Ltd. All right reserved. 2013 The American Society of Human Genetics ;ISSN: 0002-9297 ;EISSN: 1537-6605 ;DOI: 10.1016/j.ajhg.2013.05.004 ;PMID: 23746549Full text available |
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16 |
Material Type: Article
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An Osteoporosis Risk SNP at 1p36.12 Acts as an Allele-Specific Enhancer to Modulate LINC00339 Expression via Long-Range Loop FormationAmerican journal of human genetics, 2018-05, Vol.102 (5), p.776-793 [Peer Reviewed Journal]2018 American Society of Human Genetics ;Copyright © 2018 American Society of Human Genetics. Published by Elsevier Inc. All rights reserved. ;2018 American Society of Human Genetics. 2018 American Society of Human Genetics ;ISSN: 0002-9297 ;EISSN: 1537-6605 ;DOI: 10.1016/j.ajhg.2018.03.001 ;PMID: 29706346Full text available |
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17 |
Material Type: Article
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ACTN1 Mutations Cause Congenital MacrothrombocytopeniaAmerican journal of human genetics, 2013-03, Vol.92 (3), p.431-438 [Peer Reviewed Journal]2013 The American Society of Human Genetics ;Copyright © 2013 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved. ;Copyright Cell Press Mar 7, 2013 ;2013 The American Society of Human Genetics. Published by Elsevier Ltd. All right reserved. 2013 The American Society of Human Genetics ;ISSN: 0002-9297 ;EISSN: 1537-6605 ;DOI: 10.1016/j.ajhg.2013.01.015 ;PMID: 23434115Full text available |
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18 |
Material Type: Article
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Contribution of a Non-classical HLA Gene, HLA-DOA, to the Risk of Rheumatoid ArthritisAmerican journal of human genetics, 2016-08, Vol.99 (2), p.366-374 [Peer Reviewed Journal]2016 ;Copyright © 2016. Published by Elsevier Inc. ;Copyright Cell Press Aug 4, 2016 ;2016. 2016 ;ISSN: 0002-9297 ;EISSN: 1537-6605 ;DOI: 10.1016/j.ajhg.2016.06.019 ;PMID: 27486778Full text available |
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19 |
Material Type: Article
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Mitochondrial Haplogroup N9a Confers Resistance against Type 2 Diabetes in AsiansAmerican journal of human genetics, 2007-03, Vol.80 (3), p.407-415 [Peer Reviewed Journal]2007 The American Society of Human Genetics ;2007 INIST-CNRS ;Copyright University of Chicago, acting through its Press Mar 2007 ;2006 by The American Society of Human Genetics. All rights reserved. 2006 ;ISSN: 0002-9297 ;EISSN: 1537-6605 ;DOI: 10.1086/512202 ;PMID: 17273962 ;CODEN: AJHGAGFull text available |
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20 |
Material Type: Article
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HLA-DPB1 and HLA Class I Confer Risk of and Protection from NarcolepsyAmerican journal of human genetics, 2015-01, Vol.96 (1), p.136-146 [Peer Reviewed Journal]2015 The American Society of Human Genetics ;Copyright © 2015 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved. ;Copyright Cell Press Jan 8, 2015 ;Distributed under a Creative Commons Attribution 4.0 International License ;2015 The American Society of Human Genetics. Published by Elsevier Ltd. All right reserved. 2015 The American Society of Human Genetics ;ISSN: 0002-9297 ;EISSN: 1537-6605 ;DOI: 10.1016/j.ajhg.2014.12.010 ;PMID: 25574827Full text available |