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1
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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2
Molecular Pathophysiology of Congenital Long QT Syndrome
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Molecular Pathophysiology of Congenital Long QT Syndrome

Physiological reviews, 2017-01, Vol.97 (1), p.89-134 [Peer Reviewed Journal]

Copyright © 2017 the American Physiological Society. ;Copyright American Physiological Society Jan 2017 ;Copyright © 2017 the American Physiological Society 2017 American Physiological Society ;ISSN: 0031-9333 ;EISSN: 1522-1210 ;DOI: 10.1152/physrev.00008.2016 ;PMID: 27807201 ;CODEN: PHREA7

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3
DIAGNOSIS OF ENDOCRINE DISEASE: Congenital hypothyroidism: update and perspectives
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DIAGNOSIS OF ENDOCRINE DISEASE: Congenital hypothyroidism: update and perspectives

European journal of endocrinology, 2018-12, Vol.179 (6), p.R297-R317 [Peer Reviewed Journal]

2018 European Society of Endocrinology ;ISSN: 0804-4643 ;EISSN: 1479-683X ;DOI: 10.1530/EJE-18-0383 ;PMID: 30324792

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4
Changing Landscape of Congenital Heart Disease
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Changing Landscape of Congenital Heart Disease

Circulation research, 2017-03, Vol.120 (6), p.908-922 [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.116.309302 ;PMID: 28302739

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5
Hearing loss and congenital CMV infection: a systematic review
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Hearing loss and congenital CMV infection: a systematic review

Pediatrics (Evanston), 2014-11, Vol.134 (5), p.972-982 [Peer Reviewed Journal]

Copyright © 2014 by the American Academy of Pediatrics. ;Copyright American Academy of Pediatrics Nov 2014 ;ISSN: 0031-4005 ;EISSN: 1098-4275 ;DOI: 10.1542/peds.2014-1173 ;PMID: 25349318 ;CODEN: PEDIAU

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6
Quantification of inbreeding due to distant ancestors and its detection using dense single nucleotide polymorphism data
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Quantification of inbreeding due to distant ancestors and its detection using dense single nucleotide polymorphism data

Genetics (Austin), 2011-09, Vol.189 (1), p.237-249 [Peer Reviewed Journal]

Copyright Genetics Society of America Sep 2011 ;Copyright © 2011 by the Genetics Society of America 2011 ;ISSN: 1943-2631 ;ISSN: 0016-6731 ;EISSN: 1943-2631 ;DOI: 10.1534/genetics.111.130922 ;PMID: 21705750 ;CODEN: GENTAE

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7
Variation in Prenatal Diagnosis of Congenital Heart Disease in Infants
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Variation in Prenatal Diagnosis of Congenital Heart Disease in Infants

Pediatrics (Evanston), 2015-08, Vol.136 (2), p.e378-e385 [Peer Reviewed Journal]

Copyright © 2015 by the American Academy of Pediatrics. ;Copyright American Academy of Pediatrics Aug 2015 ;ISSN: 0031-4005 ;EISSN: 1098-4275 ;DOI: 10.1542/peds.2014-3783 ;PMID: 26216324 ;CODEN: PEDIAU

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8
Meiotic spindle assembly and chromosome segregation in oocytes
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Meiotic spindle assembly and chromosome segregation in oocytes

The Journal of cell biology, 2016-12, Vol.215 (5), p.611-619 [Peer Reviewed Journal]

2016 Bennabi et al. ;Distributed under a Creative Commons Attribution 4.0 International License ;2016 Bennabi et al. 2016 ;ISSN: 0021-9525 ;EISSN: 1540-8140 ;DOI: 10.1083/jcb.201607062 ;PMID: 27879467 ;CODEN: JCLBA3

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9
Prenatal diagnosis and prevalence of critical congenital heart defects: an international retrospective cohort study
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Prenatal diagnosis and prevalence of critical congenital heart defects: an international retrospective cohort study

BMJ open, 2019-07, Vol.9 (7), p.e028139-e028139 [Peer Reviewed Journal]

Author(s) (or their employer(s)) 2019. Re-use permitted under CC BY. Published by BMJ. ;2019 Author(s) (or their employer(s)) 2019. Re-use permitted under CC BY. Published by BMJ. This is an open access article distributed in accordance with the Creative Commons Attribution 4.0 Unported (CC BY 4.0) license, which permits others to copy, redistribute, remix, transform and build upon this work for any purpose, provided the original work is properly cited, a link to the licence is given, and indication of whether changes were made. See: https://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. ;Author(s) (or their employer(s)) 2019. Re-use permitted under CC BY. Published by BMJ. 2019 ;ISSN: 2044-6055 ;EISSN: 2044-6055 ;DOI: 10.1136/bmjopen-2018-028139 ;PMID: 31270117

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10
Cowden Syndrome and the PTEN Hamartoma Tumor Syndrome: Systematic Review and Revised Diagnostic Criteria
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Cowden Syndrome and the PTEN Hamartoma Tumor Syndrome: Systematic Review and Revised Diagnostic Criteria

JNCI : Journal of the National Cancer Institute, 2013-11, Vol.105 (21), p.1607-1616 [Peer Reviewed Journal]

2015 INIST-CNRS ;Copyright Oxford Publishing Limited(England) Nov 6, 2013 ;ISSN: 0027-8874 ;EISSN: 1460-2105 ;DOI: 10.1093/jnci/djt277 ;PMID: 24136893 ;CODEN: JNCIEQ

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11
Role of Epigenetics in Cardiac Development and Congenital Diseases
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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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12
A Targeted Approach for Congenital Cytomegalovirus Screening Within Newborn Hearing Screening
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A Targeted Approach for Congenital Cytomegalovirus Screening Within Newborn Hearing Screening

Pediatrics (Evanston), 2017-02, Vol.139 (2), p.1-1 [Peer Reviewed Journal]

Copyright © 2017 by the American Academy of Pediatrics. ;Copyright American Academy of Pediatrics Feb 2017 ;Copyright © 2017 by the American Academy of Pediatrics 2017 ;ISSN: 0031-4005 ;EISSN: 1098-4275 ;DOI: 10.1542/peds.2016-2128 ;PMID: 28049114 ;CODEN: PEDIAU

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13
Understanding the gut–kidney axis in nephrolithiasis: an analysis of the gut microbiota composition and functionality of stone formers
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Article
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Understanding the gut–kidney axis in nephrolithiasis: an analysis of the gut microbiota composition and functionality of stone formers

Gut, 2018-12, Vol.67 (12), p.2097-2106 [Peer Reviewed Journal]

Article author(s) (or their employer(s) unless otherwise stated in the text of the article) 2018. All rights reserved. No commercial use is permitted unless otherwise expressly granted. ;2018 Article author(s) (or their employer(s) unless otherwise stated in the text of the article) 2018. All rights reserved. No commercial use is permitted unless otherwise expressly granted. ;ISSN: 0017-5749 ;EISSN: 1468-3288 ;DOI: 10.1136/gutjnl-2017-315734 ;PMID: 29705728

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14
16p13.11 microduplication in 45 new patients: refined clinical significance and genotype–phenotype correlations
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16p13.11 microduplication in 45 new patients: refined clinical significance and genotype–phenotype correlations

Journal of medical genetics, 2020-05, Vol.57 (5), p.301-307 [Peer Reviewed Journal]

Author(s) (or their employer(s)) 2020. No commercial re-use. See rights and permissions. Published by BMJ. ;2020 Author(s) (or their employer(s)) 2020. No commercial re-use. See rights and permissions. Published by BMJ. ;Distributed under a Creative Commons Attribution 4.0 International License ;ISSN: 0022-2593 ;ISSN: 1468-6244 ;EISSN: 1468-6244 ;DOI: 10.1136/jmedgenet-2018-105389 ;PMID: 30287593

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15
Inherited cataracts: molecular genetics, clinical features, disease mechanisms and novel therapeutic approaches
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Article
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Inherited cataracts: molecular genetics, clinical features, disease mechanisms and novel therapeutic approaches

British journal of ophthalmology, 2020-10, Vol.104 (10), p.1331-1337 [Peer Reviewed Journal]

Author(s) (or their employer(s)) 2020. Re-use permitted under CC BY. Published by BMJ. ;2020 Author(s) (or their employer(s)) 2020. Re-use permitted under CC BY. Published by BMJ. This is an open access article distributed in accordance with the Creative Commons Attribution 4.0 Unported (CC BY 4.0) license, which permits others to copy, redistribute, remix, transform and build upon this work for any purpose, provided the original work is properly cited, a link to the licence is given, and indication of whether changes were made. See: https://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. ;ISSN: 0007-1161 ;EISSN: 1468-2079 ;DOI: 10.1136/bjophthalmol-2019-315282 ;PMID: 32217542

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16
Update and audit of the St George’s classification algorithm of primary lymphatic anomalies: a clinical and molecular approach to diagnosis
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Update and audit of the St George’s classification algorithm of primary lymphatic anomalies: a clinical and molecular approach to diagnosis

Journal of medical genetics, 2020-10, Vol.57 (10), p.653-659 [Peer Reviewed Journal]

Author(s) (or their employer(s)) 2020. Re-use permitted under CC BY. Published by BMJ. ;2020 Author(s) (or their employer(s)) 2020. Re-use permitted under CC BY. Published by BMJ. This is an open access article distributed in accordance with the Creative Commons Attribution 4.0 Unported (CC BY 4.0) license, which permits others to copy, redistribute, remix, transform and build upon this work for any purpose, provided the original work is properly cited, a link to the licence is given, and indication of whether changes were made. See: https://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. ;Author(s) (or their employer(s)) 2020. Re-use permitted under CC BY. Published by BMJ. 2020 ;ISSN: 0022-2593 ;EISSN: 1468-6244 ;DOI: 10.1136/jmedgenet-2019-106084 ;PMID: 32409509

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17
The developmental biology of genetic Notch disorders
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Article
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The developmental biology of genetic Notch disorders

Development (Cambridge), 2017-05, Vol.144 (10), p.1743-1763 [Peer Reviewed Journal]

2017. Published by The Company of Biologists Ltd. ;Copyright The Company of Biologists Ltd May 15, 2017 ;ISSN: 0950-1991 ;ISSN: 1477-9129 ;EISSN: 1477-9129 ;DOI: 10.1242/dev.148007 ;PMID: 28512196

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18
Zika, chikungunya and dengue: the causes and threats of new and re-emerging arboviral diseases
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Zika, chikungunya and dengue: the causes and threats of new and re-emerging arboviral diseases

BMJ global health, 2018-01, Vol.3 (Suppl 1), p.e000530-e000530 [Peer Reviewed Journal]

World Health Organization [2017]. Licensee BMJ. ;2017 World Health Organization [2017]. Licensee BMJ. This is an open access article distributed under the terms of the Creative Commons Attribution-NonCommercial IGO License (CC BY-NC 3.0 IGO), which permits use, distribution,and reproduction for non-commercial purposes in any medium, provided the original work is properly cited. In any reproduction of this article there should not be any suggestion that WHO or this article endorse any specific organization or products. The use of the WHO logo is not permitted. This notice should be preserved along with the article’s original URL. See: https://creativecommons.org/licenses/by-nc/3.0/igo Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. ;World Health Organization [2017]. Licensee BMJ. 2017 ;ISSN: 2059-7908 ;EISSN: 2059-7908 ;DOI: 10.1136/bmjgh-2017-000530 ;PMID: 29435366

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19
Congenital diaphragmatic hernias: from genes to mechanisms to therapies
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Article
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Congenital diaphragmatic hernias: from genes to mechanisms to therapies

Disease models & mechanisms, 2017-08, Vol.10 (8), p.955-970 [Peer Reviewed Journal]

2017. Published by The Company of Biologists Ltd. ;2017. 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. ;2017. Published by The Company of Biologists Ltd 2017 ;ISSN: 1754-8403 ;EISSN: 1754-8411 ;DOI: 10.1242/dmm.028365 ;PMID: 28768736

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20
Genome-wide association analysis of diverticular disease points towards neuromuscular, connective tissue and epithelial pathomechanisms
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Genome-wide association analysis of diverticular disease points towards neuromuscular, connective tissue and epithelial pathomechanisms

Gut, 2019-05, Vol.68 (5), p.854-865 [Peer Reviewed Journal]

Author(s) (or their employer(s)) 2019. No commercial re-use. See rights and permissions. Published by BMJ. ;2019 Author(s) (or their employer(s)) 2019. No commercial re-use. See rights and permissions. Published by BMJ. ;ISSN: 0017-5749 ;ISSN: 1468-3288 ;EISSN: 1468-3288 ;DOI: 10.1136/gutjnl-2018-317619 ;PMID: 30661054

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