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Results 1 - 20 of 6,999  for All Library Resources

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1
Role of Epigenetics in Cardiac Development and Congenital Diseases
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Article
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Role of Epigenetics in Cardiac Development and Congenital Diseases

Physiological reviews, 2018-10, Vol.98 (4), p.2453-2475 [Peer Reviewed Journal]

Copyright American Physiological Society Oct 2018 ;ISSN: 0031-9333 ;EISSN: 1522-1210 ;DOI: 10.1152/physrev.00048.2017 ;PMID: 30156497

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2
Deubiquitylases in developmental ubiquitin signaling and congenital diseases
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Deubiquitylases in developmental ubiquitin signaling and congenital diseases

Cell death and differentiation, 2021-02, Vol.28 (2), p.538-556 [Peer Reviewed Journal]

This is a U.S. government work and not under copyright protection in the U.S.; foreign copyright protection may apply 2020. This work is published under http://creativecommons.org/licenses/by/4.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. ;This is a U.S. government work and not under copyright protection in the U.S.; foreign copyright protection may apply 2020 ;ISSN: 1350-9047 ;EISSN: 1476-5403 ;DOI: 10.1038/s41418-020-00697-5 ;PMID: 33335288

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3
Congenital Diseases of DNA Replication: Clinical Phenotypes and Molecular Mechanisms
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Congenital Diseases of DNA Replication: Clinical Phenotypes and Molecular Mechanisms

International journal of molecular sciences, 2021-01, Vol.22 (2), p.911 [Peer Reviewed Journal]

2021. This work is licensed under http://creativecommons.org/licenses/by/3.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. ;2021 by the authors. 2021 ;ISSN: 1422-0067 ;ISSN: 1661-6596 ;EISSN: 1422-0067 ;DOI: 10.3390/ijms22020911 ;PMID: 33477564

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4
Pre-Ribosomal RNA Processing in Human Cells: From Mechanisms to Congenital Diseases
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Pre-Ribosomal RNA Processing in Human Cells: From Mechanisms to Congenital Diseases

Biomolecules (Basel, Switzerland), 2018-10, Vol.8 (4), p.123 [Peer Reviewed Journal]

2018 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (http://creativecommons.org/licenses/by/4.0/). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. ;Distributed under a Creative Commons Attribution 4.0 International License ;2018 by the authors. 2018 ;ISSN: 2218-273X ;EISSN: 2218-273X ;DOI: 10.3390/biom8040123 ;PMID: 30356013

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5
Mutations of small heat shock proteins and human congenital diseases
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Article
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Mutations of small heat shock proteins and human congenital diseases

Biochemistry (Moscow), 2012-12, Vol.77 (13), p.1500-1514 [Peer Reviewed Journal]

Pleiades Publishing, Ltd. 2012 ;COPYRIGHT 2012 Springer ;ISSN: 0006-2979 ;EISSN: 1608-3040 ;DOI: 10.1134/S0006297912130081 ;PMID: 23379525

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6
Epigenetic deregulation of imprinting in congenital diseases of aberrant growth
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Epigenetic deregulation of imprinting in congenital diseases of aberrant growth

BioEssays, 2006-05, Vol.28 (5), p.453-459 [Peer Reviewed Journal]

Copyright © 2006 Wiley Periodicals, Inc. ;2006 Wiley Periodicals, Inc. ;Distributed under a Creative Commons Attribution 4.0 International License ;ISSN: 0265-9247 ;EISSN: 1521-1878 ;DOI: 10.1002/bies.20407 ;PMID: 16615080

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7
Congenital diseases of intrahepatic bile ducts: Variations on the theme “ductal plate malformation”
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Congenital diseases of intrahepatic bile ducts: Variations on the theme “ductal plate malformation”

Hepatology (Baltimore, Md.), 1992-10, Vol.16 (4), p.1069-1083 [Peer Reviewed Journal]

Copyright © 1992 American Association for the Study of Liver Diseases ;ISSN: 0270-9139 ;EISSN: 1527-3350 ;DOI: 10.1002/hep.1840160434 ;PMID: 1398487

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8
Roles of FGF receptors in mammalian development and congenital diseases
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Roles of FGF receptors in mammalian development and congenital diseases

Birth defects research. Part C. Embryo today, 2003-12, Vol.69 (4), p.286-304 [Peer Reviewed Journal]

Published 2003 Wiley‐Liss, Inc. ;Distributed under a Creative Commons Attribution 4.0 International License ;ISSN: 1542-975X ;EISSN: 1542-9768 ;DOI: 10.1002/bdrc.10025 ;PMID: 14745970

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9
Congenital diseases and semaphorin signaling: Overview to date of the evidence linking them
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Article
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Congenital diseases and semaphorin signaling: Overview to date of the evidence linking them

Congenital anomalies, 2015-02, Vol.55 (1), p.26-30 [Peer Reviewed Journal]

2014 Japanese Teratology Society ;2014 Japanese Teratology Society. ;ISSN: 0914-3505 ;EISSN: 1741-4520 ;DOI: 10.1111/cga.12095 ;PMID: 25385160

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10
Comorbidity of fetal alcohol spectrum disorder: a systematic review and meta-analysis
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Comorbidity of fetal alcohol spectrum disorder: a systematic review and meta-analysis

The Lancet (British edition), 2016-03, Vol.387 (10022), p.978-987 [Peer Reviewed Journal]

Elsevier Ltd ;2016 Elsevier Ltd ;Copyright © 2016 Elsevier Ltd. All rights reserved. ;Copyright Elsevier Limited Mar 5, 2016 ;ISSN: 0140-6736 ;EISSN: 1474-547X ;DOI: 10.1016/S0140-6736(15)01345-8 ;PMID: 26777270 ;CODEN: LANCAO

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11
Molecular and cellular mechanisms of development underlying congenital diseases
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Article
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Molecular and cellular mechanisms of development underlying congenital diseases

Congenital anomalies, 2014-02, Vol.54 (1), p.1-7 [Peer Reviewed Journal]

2013 Japanese Teratology Society ;Copyright © 2014 Japanese Teratology Society ;ISSN: 0914-3505 ;EISSN: 1741-4520 ;DOI: 10.1111/cga.12039 ;PMID: 24666178

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12
Chromothripsis as an on-target consequence of CRISPR-Cas9 genome editing
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Chromothripsis as an on-target consequence of CRISPR-Cas9 genome editing

Nature genetics, 2021-06, Vol.53 (6), p.895-905 [Peer Reviewed Journal]

COPYRIGHT 2021 Nature Publishing Group ;Copyright Nature Publishing Group Jun 2021 ;ISSN: 1061-4036 ;EISSN: 1546-1718 ;DOI: 10.1038/s41588-021-00838-7 ;PMID: 33846636

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13
Interferons and Proinflammatory Cytokines in Pregnancy and Fetal Development
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Article
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Interferons and Proinflammatory Cytokines in Pregnancy and Fetal Development

Immunity (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: 30231982

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14
InterVar: Clinical Interpretation of Genetic Variants by the 2015 ACMG-AMP Guidelines
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InterVar: Clinical Interpretation of Genetic Variants by the 2015 ACMG-AMP Guidelines

American 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: 28132688

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15
Genomic frontiers in congenital heart disease
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Article
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Genomic frontiers in congenital heart disease

Nature reviews cardiology, 2022-01, Vol.19 (1), p.26-42 [Peer Reviewed Journal]

2021. Springer Nature Limited. ;Springer Nature Limited 2021. ;ISSN: 1759-5002 ;EISSN: 1759-5010 ;DOI: 10.1038/s41569-021-00587-4 ;PMID: 34272501

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16
Detection and interpretation of shared genetic influences on 42 human traits
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Article
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Detection and interpretation of shared genetic influences on 42 human traits

Nature genetics, 2016-07, Vol.48 (7), p.709-717 [Peer Reviewed Journal]

COPYRIGHT 2016 Nature Publishing Group ;COPYRIGHT 2016 Nature Publishing Group ;Copyright Nature Publishing Group Jul 2016 ;Distributed under a Creative Commons Attribution 4.0 International License ;ISSN: 1061-4036 ;EISSN: 1546-1718 ;DOI: 10.1038/ng.3570 ;PMID: 27182965

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17
Genetics and Genomics of Congenital Heart Disease
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Genetics and Genomics of Congenital Heart Disease

Circulation research, 2017-03, Vol.120 (6), p.923-940 [Peer Reviewed Journal]

2017 American Heart Association, Inc. ;Copyright Lippincott Williams & Wilkins Ovid Technologies Mar 17, 2017 ;ISSN: 0009-7330 ;EISSN: 1524-4571 ;DOI: 10.1161/circresaha.116.309140 ;PMID: 28302740

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18
The Major Causes of Death in Children and Adolescents in the United States
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The Major Causes of Death in Children and Adolescents in the United States

The New England journal of medicine, 2018-12, Vol.379 (25), p.2468-2475 [Peer Reviewed Journal]

Copyright © 2018 Massachusetts Medical Society. All rights reserved. ;ISSN: 0028-4793 ;EISSN: 1533-4406 ;DOI: 10.1056/NEJMsr1804754 ;PMID: 30575483

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19
Formation of new chromatin domains determines pathogenicity of genomic duplications
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Formation of new chromatin domains determines pathogenicity of genomic duplications

Nature (London), 2016-10, Vol.538 (7624), p.265-269 [Peer Reviewed Journal]

COPYRIGHT 2016 Nature Publishing Group ;COPYRIGHT 2016 Nature Publishing Group ;Copyright Nature Publishing Group Oct 13, 2016 ;ISSN: 0028-0836 ;EISSN: 1476-4687 ;DOI: 10.1038/nature19800 ;PMID: 27706140 ;CODEN: NATUAS

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20
A map of constrained coding regions in the human genome
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Article
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A map of constrained coding regions in the human genome

Nature genetics, 2019-01, Vol.51 (1), p.88-95 [Peer Reviewed Journal]

COPYRIGHT 2019 Nature Publishing Group ;Copyright Nature Publishing Group Jan 2019 ;ISSN: 1061-4036 ;EISSN: 1546-1718 ;DOI: 10.1038/s41588-018-0294-6 ;PMID: 30531870

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