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1
Parental occupational exposure and congenital heart diseases in a Hungarian case–control study
Parental occupational exposure and congenital heart diseases in a Hungarian case–control study
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Parental occupational exposure and congenital heart diseases in a Hungarian case–control study

International archives of occupational and environmental health, 2021-04, Vol.94 (3), p.515-527 [Peer Reviewed Journal]

The Author(s) 2020 ;COPYRIGHT 2021 Springer ;The Author(s) 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. ;ISSN: 0340-0131 ;EISSN: 1432-1246 ;DOI: 10.1007/s00420-020-01589-4 ;PMID: 33170344

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2
Genetic basis of human congenital anomalies of the kidney and urinary tract
Genetic basis of human congenital anomalies of the kidney and urinary tract
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Genetic basis of human congenital anomalies of the kidney and urinary tract

The Journal of clinical investigation, 2018-01, Vol.128 (1), p.4-15 [Peer Reviewed Journal]

COPYRIGHT 2018 American Society for Clinical Investigation ;Copyright American Society for Clinical Investigation Jan 2018 ;Copyright © 2018, American Society for Clinical Investigation 2018 American Society for Clinical Investigation ;ISSN: 0021-9738 ;EISSN: 1558-8238 ;DOI: 10.1172/jci95300 ;PMID: 29293093

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3
Estimating the effect size of the 15Q11.2 BP1–BP2 deletion and its contribution to neurodevelopmental symptoms: recommendations for practice
Estimating the effect size of the 15Q11.2 BP1–BP2 deletion and its contribution to neurodevelopmental symptoms: recommendations for practice
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Estimating the effect size of the 15Q11.2 BP1–BP2 deletion and its contribution to neurodevelopmental symptoms: recommendations for practice

Journal of medical genetics, 2019-10, Vol.56 (10), p.701-710 [Peer Reviewed Journal]

Author(s) (or their employer(s)) 2019. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ. ;2019 Author(s) (or their employer(s)) 2019. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ. This is an open access article distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited, appropriate credit is given, any changes made indicated, and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/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 ;Author(s) (or their employer(s)) 2019. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ. 2019 ;ISSN: 0022-2593 ;ISSN: 1468-6244 ;EISSN: 1468-6244 ;DOI: 10.1136/jmedgenet-2018-105879 ;PMID: 31451536

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4
Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands
Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands
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Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands

Nature genetics, 2017-11, Vol.49 (11), p.1593-1601 [Peer Reviewed Journal]

COPYRIGHT 2017 Nature Publishing Group ;COPYRIGHT 2017 Nature Publishing Group ;Copyright Nature Publishing Group Nov 2017 ;ISSN: 1061-4036 ;EISSN: 1546-1718 ;DOI: 10.1038/ng.3970 ;PMID: 28991257

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5
Activating mutations in FGFR3 and HRAS reveal a shared genetic origin for congenital disorders and testicular tumors
Activating mutations in FGFR3 and HRAS reveal a shared genetic origin for congenital disorders and testicular tumors
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Activating mutations in FGFR3 and HRAS reveal a shared genetic origin for congenital disorders and testicular tumors

Nature genetics, 2009-11, Vol.41 (11), p.1247-1252 [Peer Reviewed Journal]

2009 INIST-CNRS ;COPYRIGHT 2009 Nature Publishing Group ;Copyright Nature Publishing Group Nov 2009 ;ISSN: 1061-4036 ;EISSN: 1546-1718 ;DOI: 10.1038/ng.470 ;PMID: 19855393 ;CODEN: NGENEC

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6
Three‐dimensional printing in congenital heart disease: A systematic review
Three‐dimensional printing in congenital heart disease: A systematic review
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Three‐dimensional printing in congenital heart disease: A systematic review

Journal of medical radiation sciences, 2018-09, Vol.65 (3), p.226-236 [Peer Reviewed Journal]

2018 The Authors. published by John Wiley & Sons Australia, Ltd on behalf of Australian Society of Medical Imaging and Radiation Therapy and New Zealand Institute of Medical Radiation Technology. ;2018 The Authors. Journal of Medical Radiation Sciences published by John Wiley & Sons Australia, Ltd on behalf of Australian Society of Medical Imaging and Radiation Therapy and New Zealand Institute of Medical Radiation Technology. ;2018 Journal of Medical Radiation Sciences published by John Wiley & Sons Australia, Ltd on behalf of Australian Society of Medical Imaging and Radiation Therapy and New Zealand Institute of Medical Radiation Technology ;2018. 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. ;ISSN: 2051-3895 ;EISSN: 2051-3909 ;DOI: 10.1002/jmrs.268 ;PMID: 29453808

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7
Congenital Diseases of DNA Replication: Clinical Phenotypes and Molecular Mechanisms
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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8
The developmental biology of genetic Notch disorders
The developmental biology of genetic Notch disorders
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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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9
Disrupted ER membrane protein complex-mediated topogenesis drives congenital neural crest defects
Disrupted ER membrane protein complex-mediated topogenesis drives congenital neural crest defects
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Disrupted ER membrane protein complex-mediated topogenesis drives congenital neural crest defects

The Journal of clinical investigation, 2020-02, Vol.130 (2), p.813-826 [Peer Reviewed Journal]

COPYRIGHT 2020 American Society for Clinical Investigation ;COPYRIGHT 2020 American Society for Clinical Investigation ;Copyright American Society for Clinical Investigation Feb 2020 ;2020 American Society for Clinical Investigation 2020 American Society for Clinical Investigation ;ISSN: 0021-9738 ;EISSN: 1558-8238 ;DOI: 10.1172/jci129308 ;PMID: 31904590

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10
Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations
Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations
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Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations

Nature genetics, 2017-04, Vol.49 (4), p.613-617 [Peer Reviewed Journal]

COPYRIGHT 2017 Nature Publishing Group ;COPYRIGHT 2017 Nature Publishing Group ;Copyright Nature Publishing Group Apr 2017 ;ISSN: 1061-4036 ;EISSN: 1546-1718 ;DOI: 10.1038/ng.3815 ;PMID: 28288113

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11
Mutations in INPP5K Cause a Form of Congenital Muscular Dystrophy Overlapping Marinesco-Sjögren Syndrome and Dystroglycanopathy
Mutations in INPP5K Cause a Form of Congenital Muscular Dystrophy Overlapping Marinesco-Sjögren Syndrome and Dystroglycanopathy
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Mutations in INPP5K Cause a Form of Congenital Muscular Dystrophy Overlapping Marinesco-Sjögren Syndrome and Dystroglycanopathy

American journal of human genetics, 2017-03, Vol.100 (3), p.537-545 [Peer Reviewed Journal]

2017 ;Copyright © 2017 The Author(s). Published by Elsevier Inc. All rights reserved. ;Copyright Cell Press Mar 2, 2017 ;2017 The Author(s) 2017 ;ISSN: 0002-9297 ;EISSN: 1537-6605 ;DOI: 10.1016/j.ajhg.2017.01.019 ;PMID: 28190459

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12
Mutations of small heat shock proteins and human congenital diseases
Mutations of small heat shock proteins and human congenital diseases
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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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13
Congenital Portosystemic Shunts in Children: Associations, Complications, and Outcomes
Congenital Portosystemic Shunts in Children: Associations, Complications, and Outcomes
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Congenital Portosystemic Shunts in Children: Associations, Complications, and Outcomes

Digestive diseases and sciences, 2020-04, Vol.65 (4), p.1239-1251 [Peer Reviewed Journal]

Springer Science+Business Media, LLC, part of Springer Nature 2019 ;COPYRIGHT 2020 Springer ;Digestive Diseases and Sciences is a copyright of Springer, (2019). All Rights Reserved. ;ISSN: 0163-2116 ;EISSN: 1573-2568 ;DOI: 10.1007/s10620-019-05834-w ;PMID: 31549332

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14
4D flow cardiovascular magnetic resonance for monitoring of aortic valve repair in bicuspid aortic valve disease
4D flow cardiovascular magnetic resonance for monitoring of aortic valve repair in bicuspid aortic valve disease
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4D flow cardiovascular magnetic resonance for monitoring of aortic valve repair in bicuspid aortic valve disease

Journal of cardiovascular magnetic resonance, 2020-04, Vol.22 (1), p.29-29, Article 29 [Peer Reviewed Journal]

COPYRIGHT 2020 BioMed Central Ltd. ;COPYRIGHT 2020 BioMed Central Ltd. ;2020. This work is licensed 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. ;The Author(s) 2020 ;ISSN: 1532-429X ;ISSN: 1097-6647 ;EISSN: 1532-429X ;DOI: 10.1186/s12968-020-00608-0 ;PMID: 32354361

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15
Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study
Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study
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Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study

The Lancet (British edition), 2019-02, Vol.393 (10173), p.747-757 [Peer Reviewed Journal]

2019 The Author(s). Published by Elsevier Ltd. This is an Open Access article under the CC BY 4.0 license ;Copyright © 2019 The Author(s). Published by Elsevier Ltd. This is an Open Access article under the CC BY 4.0 license. Published by Elsevier Ltd.. All rights reserved. ;2019. The Author(s). Published by Elsevier Ltd. This is an Open Access article under the CC BY 4.0 license. ;2019 The Author(s). Published by Elsevier Ltd. This is an Open Access article under the CC BY 4.0 license 2019 ;ISSN: 0140-6736 ;EISSN: 1474-547X ;DOI: 10.1016/S0140-6736(18)31940-8 ;PMID: 30712880

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16
DIAGNOSIS OF ENDOCRINE DISEASE: Congenital hypothyroidism: update and perspectives
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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17
The copy number variation landscape of congenital anomalies of the kidney and urinary tract
The copy number variation landscape of congenital anomalies of the kidney and urinary tract
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The copy number variation landscape of congenital anomalies of the kidney and urinary tract

Nature genetics, 2019-01, Vol.51 (1), p.117-127 [Peer Reviewed Journal]

COPYRIGHT 2019 Nature Publishing Group ;COPYRIGHT 2019 Nature Publishing Group ;Copyright Nature Publishing Group Jan 2019 ;ISSN: 1061-4036 ;EISSN: 1546-1718 ;DOI: 10.1038/s41588-018-0281-y ;PMID: 30578417

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18
The duality of human oncoproteins: drivers of cancer and congenital disorders
The duality of human oncoproteins: drivers of cancer and congenital disorders
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The duality of human oncoproteins: drivers of cancer and congenital disorders

Nature reviews. Cancer, 2020-07, Vol.20 (7), p.383-397 [Peer Reviewed Journal]

COPYRIGHT 2020 Nature Publishing Group ;Springer Nature Limited 2020. ;ISSN: 1474-175X ;EISSN: 1474-1768 ;DOI: 10.1038/s41568-020-0256-z ;PMID: 32341551

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19
What is new in CDG?
What is new in CDG?
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What is new in CDG?

Journal of inherited metabolic disease, 2017-07, Vol.40 (4), p.569-586 [Peer Reviewed Journal]

SSIEM 2017 ;2017 SSIEM ;Journal of Inherited Metabolic Disease is a copyright of Springer, 2017. ;ISSN: 0141-8955 ;EISSN: 1573-2665 ;DOI: 10.1007/s10545-017-0050-6 ;PMID: 28484880

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20
Genetic Basis for Congenital Heart Disease: Revisited: A Scientific Statement From the American Heart Association
Genetic Basis for Congenital Heart Disease: Revisited: A Scientific Statement From the American Heart Association
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Genetic Basis for Congenital Heart Disease: Revisited: A Scientific Statement From the American Heart Association

Circulation (New York, N.Y.), 2018-11, Vol.138 (21), p.e653-e711 [Peer Reviewed Journal]

2018 by the American College of Cardiology Foundation and the American Heart Association, Inc. ;ISSN: 0009-7322 ;EISSN: 1524-4539 ;DOI: 10.1161/CIR.0000000000000606 ;PMID: 30571578

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