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1	Material Type: Article	CHARGE syndrome: an update European journal of human genetics : EJHG, 2007-04, Vol.15 (4), p.389-399 [Peer Reviewed Journal] 2007 INIST-CNRS ;Copyright Nature Publishing Group Apr 2007 ;ISSN: 1018-4813 ;EISSN: 1476-5438 ;DOI: 10.1038/sj.ejhg.5201778 ;PMID: 17299439 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
2	Material Type: Article	Early palliative care reduces stress in parents of neonates with congenital heart disease: validation of the "Baby, Attachment, Comfort Interventions" Journal of perinatology, 2019-12, Vol.39 (12), p.1640-1647 [Peer Reviewed Journal] COPYRIGHT 2019 Nature Publishing Group ;COPYRIGHT 2019 Nature Publishing Group ;Copyright Nature Publishing Group Dec 2019 ;ISSN: 0743-8346 ;EISSN: 1476-5543 ;DOI: 10.1038/s41372-019-0490-y ;PMID: 31488903 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
3	Material Type: Article	Whole exome sequencing reveals rare variants linked to congenital pouch colon Scientific reports, 2018-04, Vol.8 (1), p.6646-8, Article 6646 [Peer Reviewed Journal] 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. ;The Author(s) 2018 ;ISSN: 2045-2322 ;EISSN: 2045-2322 ;DOI: 10.1038/s41598-018-24967-y ;PMID: 29703930 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
4	Material Type: Article	Prevalence of congenital amusia European journal of human genetics : EJHG, 2017-05, Vol.25 (5), p.625-630 [Peer Reviewed Journal] Copyright Nature Publishing Group May 2017 ;Copyright © 2017 Macmillan Publishers Limited, part of Springer Nature. 2017 Macmillan Publishers Limited, part of Springer Nature. ;ISSN: 1018-4813 ;EISSN: 1476-5438 ;DOI: 10.1038/ejhg.2017.15 ;PMID: 28224991 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
5	Material Type: Article	A preoperative standardized feeding protocol improves human milk use in infants with complex congenital heart disease Journal of perinatology, 2021-03, Vol.41 (3), p.590-597 [Peer Reviewed Journal] COPYRIGHT 2021 Nature Publishing Group ;The Author(s), under exclusive licence to Springer Nature America, Inc. 2021. ;ISSN: 0743-8346 ;EISSN: 1476-5543 ;DOI: 10.1038/s41372-021-00928-8 ;PMID: 33547410 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
6	Material Type: Article	Identification of rare de novo epigenetic variations in congenital disorders Nature communications, 2018-05, Vol.9 (1), p.2064-11, Article 2064 [Peer Reviewed Journal] 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. ;The Author(s) 2018 ;ISSN: 2041-1723 ;EISSN: 2041-1723 ;DOI: 10.1038/s41467-018-04540-x ;PMID: 29802345 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
7	Material Type: Article	Delivery room asphyxia in neonates with ductal-dependent congenital heart disease: a retrospective cohort study Journal of perinatology, 2019-12, Vol.39 (12), p.1627-1634 [Peer Reviewed Journal] COPYRIGHT 2019 Nature Publishing Group ;COPYRIGHT 2019 Nature Publishing Group ;Copyright Nature Publishing Group Dec 2019 ;ISSN: 0743-8346 ;EISSN: 1476-5543 ;DOI: 10.1038/s41372-019-0474-y ;PMID: 31434996 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
8	Material Type: Article	Implementation of a statewide, multisite fetal tele-echocardiography program: evaluation of more than 1100 fetuses over 9 years Journal of perinatology, 2020-10, Vol.40 (10), p.1524-1530 [Peer Reviewed Journal] COPYRIGHT 2020 Nature Publishing Group ;The Author(s), under exclusive licence to Springer Nature America, Inc. 2020. ;ISSN: 0743-8346 ;EISSN: 1476-5543 ;DOI: 10.1038/s41372-020-0677-2 ;PMID: 32382116 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
9	Material Type: Article	MVP predicts the pathogenicity of missense variants by deep learning Nature communications, 2021-01, Vol.12 (1), p.510-510, Article 510 [Peer Reviewed Journal] The Author(s) 2021. 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. ;The Author(s) 2021 ;ISSN: 2041-1723 ;EISSN: 2041-1723 ;DOI: 10.1038/s41467-020-20847-0 ;PMID: 33479230 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
10	Material Type: Article	Modified 16-Dot plication technique for correction of penile curvature: prevention of knot-related complications International journal of impotence research, 2018-06, Vol.30 (3), p.117-121 [Peer Reviewed Journal] COPYRIGHT 2018 Nature Publishing Group ;COPYRIGHT 2018 Nature Publishing Group ;Copyright Nature Publishing Group Jun 2018 ;ISSN: 0955-9930 ;EISSN: 1476-5489 ;DOI: 10.1038/s41443-018-0018-6 ;PMID: 29736012 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
11	Material Type: Article	Long-term outcomes of children with symptomatic congenital cytomegalovirus disease Journal of perinatology, 2017-07, Vol.37 (7), p.875-880 [Peer Reviewed Journal] COPYRIGHT 2017 Nature Publishing Group ;COPYRIGHT 2017 Nature Publishing Group ;Copyright Nature Publishing Group Jul 2017 ;Nature America, Inc., part of Springer Nature. 2017. ;ISSN: 0743-8346 ;EISSN: 1476-5543 ;DOI: 10.1038/jp.2017.41 ;PMID: 28383538 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
12	Material Type: Article	Neonatal and maternal outcomes of pregnancies with a fetal diagnosis of congenital heart disease using a standardized delivery room management protocol Journal of perinatology, 2020-02, Vol.40 (2), p.316-323 [Peer Reviewed Journal] COPYRIGHT 2020 Nature Publishing Group ;COPYRIGHT 2020 Nature Publishing Group ;2019© The Author(s), under exclusive licence to Springer Nature America, Inc. 2019 ;The Author(s), under exclusive licence to Springer Nature America, Inc. 2019. ;ISSN: 0743-8346 ;EISSN: 1476-5543 ;DOI: 10.1038/s41372-019-0528-1 ;PMID: 31611616 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
13	Material Type: Article	Functional classification of DDOST variants of uncertain clinical significance in congenital disorders of glycosylation Scientific reports, 2023-10, Vol.13 (1), p.17648-17648, Article 17648 [Peer Reviewed Journal] The Author(s) 2023. 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. ;Springer Nature Limited 2023 ;ISSN: 2045-2322 ;EISSN: 2045-2322 ;DOI: 10.1038/s41598-023-42178-y ;PMID: 37848450 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
14	Material Type: Article	SMAD6-deficiency in human genetic disorders Npj genomic medicine, 2022-11, Vol.7 (1), p.68-68, Article 68 [Peer Reviewed Journal] The Author(s) 2022. 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. ;The Author(s) 2022 ;ISSN: 2056-7944 ;EISSN: 2056-7944 ;DOI: 10.1038/s41525-022-00338-5 ;PMID: 36414630 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
15	Material Type: Article	Utilisation of exome sequencing for muscular disorders in Thai paediatric patients: diagnostic yield and mutational spectrum Scientific reports, 2023-01, Vol.13 (1), p.1376-1376, Article 1376 [Peer Reviewed Journal] 2023. The Author(s). ;The Author(s) 2023. 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. ;The Author(s) 2023 ;ISSN: 2045-2322 ;EISSN: 2045-2322 ;DOI: 10.1038/s41598-023-28405-6 ;PMID: 36697461 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
16	Material Type: Article	Genetic predisposition to fetal alcohol syndrome: association with congenital disorders of N-glycosylation Pediatric research, 2018-01, Vol.83 (1-1), p.119-127 [Peer Reviewed Journal] Copyright Nature Publishing Group Jan 2018 ;ISSN: 0031-3998 ;EISSN: 1530-0447 ;DOI: 10.1038/pr.2017.201 ;PMID: 28820871 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
17	Material Type: Article	The impact of altitude on screening for critical congenital heart disease Journal of perinatology, 2018-05, Vol.38 (5), p.530-536 [Peer Reviewed Journal] COPYRIGHT 2018 Nature Publishing Group ;COPYRIGHT 2018 Nature Publishing Group ;Copyright Nature Publishing Group May 2018 ;ISSN: 0743-8346 ;EISSN: 1476-5543 ;DOI: 10.1038/s41372-018-0043-9 ;PMID: 29379160 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
18	Material Type: Article	Microdeletions and microduplications linked to severe congenital disorders in infertile men Scientific reports, 2023-01, Vol.13 (1), p.574-574, Article 574 [Peer Reviewed Journal] 2023. The Author(s). ;The Author(s) 2023. 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. ;The Author(s) 2023 ;ISSN: 2045-2322 ;EISSN: 2045-2322 ;DOI: 10.1038/s41598-023-27750-w ;PMID: 36631630 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
19	Material Type: Article	Ribonuclease inhibitor 1 (RNH1) deficiency cause congenital cataracts and global developmental delay with infection-induced psychomotor regression and anemia European journal of human genetics : EJHG, 2023-08, Vol.31 (8), p.887-894 [Peer Reviewed Journal] 2023. The Author(s). ;The Author(s) 2023. 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. ;The Author(s) 2023 ;ISSN: 1018-4813 ;EISSN: 1476-5438 ;DOI: 10.1038/s41431-023-01327-7 ;PMID: 36935417 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
20	Material Type: Article	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 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by

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Results 1 - 20 of 90,795 for All Library Resources

2007 INIST-CNRS ;Copyright Nature Publishing Group Apr 2007 ;ISSN: 1018-4813 ;EISSN: 1476-5438 ;DOI: 10.1038/sj.ejhg.5201778 ;PMID: 17299439

COPYRIGHT 2019 Nature Publishing Group ;COPYRIGHT 2019 Nature Publishing Group ;Copyright Nature Publishing Group Dec 2019 ;ISSN: 0743-8346 ;EISSN: 1476-5543 ;DOI: 10.1038/s41372-019-0490-y ;PMID: 31488903

Copyright Nature Publishing Group May 2017 ;Copyright © 2017 Macmillan Publishers Limited, part of Springer Nature. 2017 Macmillan Publishers Limited, part of Springer Nature. ;ISSN: 1018-4813 ;EISSN: 1476-5438 ;DOI: 10.1038/ejhg.2017.15 ;PMID: 28224991

COPYRIGHT 2021 Nature Publishing Group ;The Author(s), under exclusive licence to Springer Nature America, Inc. 2021. ;ISSN: 0743-8346 ;EISSN: 1476-5543 ;DOI: 10.1038/s41372-021-00928-8 ;PMID: 33547410

COPYRIGHT 2019 Nature Publishing Group ;COPYRIGHT 2019 Nature Publishing Group ;Copyright Nature Publishing Group Dec 2019 ;ISSN: 0743-8346 ;EISSN: 1476-5543 ;DOI: 10.1038/s41372-019-0474-y ;PMID: 31434996

COPYRIGHT 2020 Nature Publishing Group ;The Author(s), under exclusive licence to Springer Nature America, Inc. 2020. ;ISSN: 0743-8346 ;EISSN: 1476-5543 ;DOI: 10.1038/s41372-020-0677-2 ;PMID: 32382116

COPYRIGHT 2018 Nature Publishing Group ;COPYRIGHT 2018 Nature Publishing Group ;Copyright Nature Publishing Group Jun 2018 ;ISSN: 0955-9930 ;EISSN: 1476-5489 ;DOI: 10.1038/s41443-018-0018-6 ;PMID: 29736012

COPYRIGHT 2017 Nature Publishing Group ;COPYRIGHT 2017 Nature Publishing Group ;Copyright Nature Publishing Group Jul 2017 ;Nature America, Inc., part of Springer Nature. 2017. ;ISSN: 0743-8346 ;EISSN: 1476-5543 ;DOI: 10.1038/jp.2017.41 ;PMID: 28383538

Copyright Nature Publishing Group Jan 2018 ;ISSN: 0031-3998 ;EISSN: 1530-0447 ;DOI: 10.1038/pr.2017.201 ;PMID: 28820871

COPYRIGHT 2018 Nature Publishing Group ;COPYRIGHT 2018 Nature Publishing Group ;Copyright Nature Publishing Group May 2018 ;ISSN: 0743-8346 ;EISSN: 1476-5543 ;DOI: 10.1038/s41372-018-0043-9 ;PMID: 29379160

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