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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Interferons and Proinflammatory Cytokines in Pregnancy and Fetal DevelopmentImmunity (Cambridge, Mass.), 2018-09, Vol.49 (3), p.397-412 [Peer Reviewed Journal]2018 Elsevier Inc. ;Copyright © 2018 Elsevier Inc. All rights reserved. ;Copyright Elsevier Limited Sep 18, 2018 ;ISSN: 1074-7613 ;EISSN: 1097-4180 ;DOI: 10.1016/j.immuni.2018.07.017 ;PMID: 30231982Full text available |
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2 |
Material Type: Article
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InterVar: Clinical Interpretation of Genetic Variants by the 2015 ACMG-AMP GuidelinesAmerican journal of human genetics, 2017-02, Vol.100 (2), p.267-280 [Peer Reviewed Journal]2017 American Society of Human Genetics ;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.2017.01.004 ;PMID: 28132688Full text available |
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3 |
Material Type: Article
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Somatic MAP2K1 Mutations Are Associated with Extracranial Arteriovenous MalformationAmerican journal of human genetics, 2017-03, Vol.100 (3), p.546-554 [Peer Reviewed Journal]2017 American Society of Human Genetics ;Copyright © 2017 American Society of Human Genetics. Published by Elsevier Inc. All rights reserved. ;Copyright Cell Press Mar 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.2017.01.018 ;PMID: 28190454Full text available |
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4 |
Material Type: Article
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Consensus Statement: Chromosomal Microarray Is a First-Tier Clinical Diagnostic Test for Individuals with Developmental Disabilities or Congenital AnomaliesAmerican journal of human genetics, 2010-05, Vol.86 (5), p.749-764 [Peer Reviewed Journal]2010 The American Society of Human Genetics ;2015 INIST-CNRS ;Copyright (c) 2010 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved. ;Copyright University of Chicago, acting through its Press May 14, 2010 ;2010 The American Society of Human Genetics. Published by Elsevier Ltd. All right reserved. 2010 The American Society of Human Genetics ;ISSN: 0002-9297 ;ISSN: 1537-6605 ;EISSN: 1537-6605 ;DOI: 10.1016/j.ajhg.2010.04.006 ;PMID: 20466091 ;CODEN: AJHGAGFull text available |
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5 |
Material Type: Article
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Immunological Lessons from Respiratory Syncytial Virus Vaccine DevelopmentImmunity (Cambridge, Mass.), 2019-09, Vol.51 (3), p.429-442 [Peer Reviewed Journal]2019 ;Published by Elsevier Inc. ;Copyright Elsevier Limited Sep 17, 2019 ;ISSN: 1074-7613 ;EISSN: 1097-4180 ;DOI: 10.1016/j.immuni.2019.08.007 ;PMID: 31533056Full text available |
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6 |
Material Type: Article
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SLC39A8 Deficiency: A Disorder of Manganese Transport and GlycosylationAmerican journal of human genetics, 2015-12, Vol.97 (6), p.894-903 [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 Dec 3, 2015 ;2015 by The American Society of Human Genetics. All rights reserved. 2015 The American Society of Human Genetics ;ISSN: 0002-9297 ;EISSN: 1537-6605 ;DOI: 10.1016/j.ajhg.2015.11.003 ;PMID: 26637979Full text available |
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7 |
Material Type: Article
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Somatic Mutations in TSC1 and TSC2 Cause Focal Cortical DysplasiaAmerican journal of human genetics, 2017-03, Vol.100 (3), p.454-472 [Peer Reviewed Journal]2017 American Society of Human Genetics ;Copyright © 2017 American Society of Human Genetics. Published by Elsevier Inc. All rights reserved. ;Copyright Cell Press Mar 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.2017.01.030 ;PMID: 28215400Full text available |
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8 |
Material Type: Article
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De Novo Mutation in Genes Regulating Neural Stem Cell Fate in Human Congenital HydrocephalusNeuron (Cambridge, Mass.), 2018-07, Vol.99 (2), p.302-314.e4 [Peer Reviewed Journal]2018 Elsevier Inc. ;Copyright © 2018 Elsevier Inc. All rights reserved. ;2018. Elsevier Inc. ;ISSN: 0896-6273 ;EISSN: 1097-4199 ;DOI: 10.1016/j.neuron.2018.06.019 ;PMID: 29983323Full text available |
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9 |
Material Type: Article
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Locus revealed: Painlessness via loss of Na V 1.7 at central terminals of sensory neuronsNeuron (Cambridge, Mass.), 2021-05, Vol.109 (9), p.1413 [Peer Reviewed Journal]Copyright © 2021 Elsevier Inc. All rights reserved. ;2021. Elsevier Inc. ;ISSN: 0896-6273 ;EISSN: 1097-4199 ;DOI: 10.1016/j.neuron.2021.04.011 ;PMID: 33957067Full text available |
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10 |
Material Type: Article
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Mutations in NOTCH1 Cause Adams-Oliver SyndromeAmerican journal of human genetics, 2014-09, Vol.95 (3), p.275-284 [Peer Reviewed Journal]2014 The American Society of Human Genetics ;Copyright © 2014 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved. ;Copyright Cell Press Sep 4, 2014 ;2014 The American Society of Human Genetics. Published by Elsevier Ltd. All right reserved. 2014 The American Society of Human Genetics ;ISSN: 0002-9297 ;EISSN: 1537-6605 ;DOI: 10.1016/j.ajhg.2014.07.011 ;PMID: 25132448Full text available |
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11 |
Material Type: Article
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Somatic Mosaic Activating Mutations in PIK3CA Cause CLOVES SyndromeAmerican journal of human genetics, 2012-06, Vol.90 (6), p.1108-1115 [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 Jun 8, 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.2012.05.006 ;PMID: 22658544 ;CODEN: AJHGAGFull text available |
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12 |
Material Type: Article
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PGM3 Mutations Cause a Congenital Disorder of Glycosylation with Severe Immunodeficiency and Skeletal DysplasiaAmerican journal of human genetics, 2014-07, Vol.95 (1), p.96-107 [Peer Reviewed Journal]2014 The American Society of Human Genetics ;Copyright © 2014 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved. ;Copyright Cell Press Jul 3, 2014 ;2014 The American Society of Human Genetics. Published by Elsevier Ltd. All right reserved. 2014 The American Society of Human Genetics ;ISSN: 0002-9297 ;EISSN: 1537-6605 ;DOI: 10.1016/j.ajhg.2014.05.007 ;PMID: 24931394Full text available |
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13 |
Material Type: Article
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Perrault Syndrome Is Caused by Recessive Mutations in CLPP, Encoding a Mitochondrial ATP-Dependent Chambered ProteaseAmerican journal of human genetics, 2013-04, Vol.92 (4), p.605-613 [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 Apr 4, 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.2013.02.013 ;PMID: 23541340Full text available |
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14 |
Material Type: Article
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Copy-Number Disorders Are a Common Cause of Congenital Kidney MalformationsAmerican journal of human genetics, 2012-12, Vol.91 (6), p.987-997 [Peer Reviewed Journal]2012 The American Society of Human Genetics ;2014 INIST-CNRS ;Copyright © 2012 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved. ;Copyright Cell Press Dec 7, 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.2012.10.007 ;PMID: 23159250 ;CODEN: AJHGAGFull text available |
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15 |
Material Type: Article
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Mutations in WNT1 Cause Different Forms of Bone FragilityAmerican journal of human genetics, 2013-04, Vol.92 (4), p.565-574 [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 Apr 4, 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.2013.02.010 ;PMID: 23499309Full text available |
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16 |
Material Type: Article
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Rapid Cue-Specific Remodeling of the Nascent Axonal ProteomeNeuron (Cambridge, Mass.), 2018-07, Vol.99 (1), p.29-46.e4 [Peer Reviewed Journal]2018 The Author(s) ;Copyright © 2018 The Author(s). Published by Elsevier Inc. All rights reserved. ;2018. The Author(s) ;2018 The Author(s) 2018 ;ISSN: 0896-6273 ;EISSN: 1097-4199 ;DOI: 10.1016/j.neuron.2018.06.004 ;PMID: 30008298Full text available |
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17 |
Material Type: Article
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Defining the Functional Role of Na V 1.7 in Human NociceptionNeuron (Cambridge, Mass.), 2019-03, Vol.101 (5), p.905 [Peer Reviewed Journal]Copyright © 2019 The Author(s). Published by Elsevier Inc. All rights reserved. ;2019. The Author(s) ;ISSN: 0896-6273 ;EISSN: 1097-4199 ;DOI: 10.1016/j.neuron.2019.01.047 ;PMID: 30795902Full text available |
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18 |
Material Type: Article
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Prospects for a Zika Virus VaccineImmunity (Cambridge, Mass.), 2017-02, Vol.46 (2), p.176-182 [Peer Reviewed Journal]2017 Elsevier Inc. ;Copyright © 2017 Elsevier Inc. All rights reserved. ;Copyright Elsevier Limited Feb 21, 2017 ;ISSN: 1074-7613 ;EISSN: 1097-4180 ;DOI: 10.1016/j.immuni.2017.02.005 ;PMID: 28228277Full text available |
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19 |
Material Type: Article
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Truncating Mutations in the Adhesion G Protein-Coupled Receptor G2 Gene ADGRG2 Cause an X-Linked Congenital Bilateral Absence of Vas DeferensAmerican journal of human genetics, 2016-08, Vol.99 (2), p.437-442 [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 Aug 4, 2016 ;Distributed under a Creative Commons Attribution 4.0 International License ;2016 American Society of Human Genetics. 2016 American Society of Human Genetics ;ISSN: 0002-9297 ;EISSN: 1537-6605 ;DOI: 10.1016/j.ajhg.2016.06.012 ;PMID: 27476656Full text available |
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20 |
Material Type: Article
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Gain-of-Function Mutations of ARHGAP31, a Cdc42/Rac1 GTPase Regulator, Cause Syndromic Cutis Aplasia and Limb AnomaliesAmerican journal of human genetics, 2011-05, Vol.88 (5), p.574-585 [Peer Reviewed Journal]2011 The American Society of Human Genetics ;2015 INIST-CNRS ;Copyright © 2011 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved. ;Copyright Cell Press May 13, 2011 ;2011 The American Society of Human Genetics. Published by Elsevier Ltd. All right reserved. 2011 The American Society of Human Genetics ;ISSN: 0002-9297 ;EISSN: 1537-6605 ;DOI: 10.1016/j.ajhg.2011.04.013 ;PMID: 21565291 ;CODEN: AJHGAGFull text available |