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1	Material Type: Article	Characteristic face: a key indicator for direct diagnosis of 22q11.2 deletions in Chinese velocardiofacial syndrome patients PloS one, 2013-01, Vol.8 (1), p.e54404 [Peer Reviewed Journal] COPYRIGHT 2013 Public Library of Science ;COPYRIGHT 2013 Public Library of Science ;2013 Wu et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License: https://creativecommons.org/licenses/by/4.0/ (the “License”), which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. ;2013 Wu et al 2013 Wu et al ;ISSN: 1932-6203 ;EISSN: 1932-6203 ;DOI: 10.1371/journal.pone.0054404 ;PMID: 23342150 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
2	Material Type: Article	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 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
3	Material Type: Article	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 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
4	Material Type: Article	Clinical heterogeneity of Pulmonary Arterial Hypertension associated with variants in TBX4 PloS one, 2020-04, Vol.15 (4), p.e0232216-e0232216 [Peer Reviewed Journal] COPYRIGHT 2020 Public Library of Science ;COPYRIGHT 2020 Public Library of Science ;2020 Hernandez-Gonzalez et al. This is an open access article distributed under the terms of the Creative Commons Attribution License: http://creativecommons.org/licenses/by/4.0/ (the “License”), which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. ;2020 Hernandez-Gonzalez et al 2020 Hernandez-Gonzalez et al ;ISSN: 1932-6203 ;EISSN: 1932-6203 ;DOI: 10.1371/journal.pone.0232216 ;PMID: 32348326 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
5	Material Type: Article	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 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
6	Material Type: Article	Left-sided congenital heart lesions in mosaic Turner syndrome Molecular genetics and genomics : MGG, 2018-04, Vol.293 (2), p.495-501 [Peer Reviewed Journal] Springer-Verlag GmbH Germany, part of Springer Nature 2017 ;Molecular Genetics and Genomics is a copyright of Springer, (2017). All Rights Reserved. ;ISSN: 1617-4615 ;EISSN: 1617-4623 ;DOI: 10.1007/s00438-017-1398-x ;PMID: 29196848 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
7	Material Type: Article	C-Reactive Protein and Long-Term Prognosis in Adult Patients with Congenital Heart Disease Journal of clinical medicine, 2024-04, Vol.13 (8), p.2199 [Peer Reviewed Journal] COPYRIGHT 2024 MDPI AG ;2024 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 (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: 2077-0383 ;EISSN: 2077-0383 ;DOI: 10.3390/jcm13082199 ;PMID: 38673472 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
8	Material Type: Article	Maternal Body Mass Index and Risk of Congenital Heart Defects in Infants: A Dose-Response Meta-Analysis BioMed research international, 2019, Vol.2019, p.1315796-14 [Peer Reviewed Journal] Copyright © 2019 Xuezhen Liu et al. ;COPYRIGHT 2019 Hindawi Limited ;Copyright © 2019 Xuezhen Liu et al. This is an open access article distributed under the Creative Commons Attribution License (the “License”), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. https://creativecommons.org/licenses/by/4.0 ;Copyright © 2019 Xuezhen Liu et al. 2019 ;ISSN: 2314-6133 ;EISSN: 2314-6141 ;DOI: 10.1155/2019/1315796 ;PMID: 31360700 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
9	Material Type: Article	KMT2C/D COMPASS complex-associated diseases [K CD COM-ADs]: an emerging class of congenital regulopathies Clinical epigenetics, 2020-01, Vol.12 (1), p.10-10, Article 10 [Peer Reviewed Journal] 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: 1868-7075 ;ISSN: 1868-7083 ;EISSN: 1868-7083 ;DOI: 10.1186/s13148-019-0802-2 ;PMID: 31924266 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
10	Material Type: Article	HILIC-UPLC-MS for high throughput and isomeric N-glycan separation and characterization in Congenital Disorders Glycosylation and human diseases Glycoconjugate journal, 2021-04, Vol.38 (2), p.201-211 [Peer Reviewed Journal] Springer Science+Business Media, LLC, part of Springer Nature 2020 ;COPYRIGHT 2021 Springer ;Springer Science+Business Media, LLC, part of Springer Nature 2020. ;ISSN: 0282-0080 ;EISSN: 1573-4986 ;DOI: 10.1007/s10719-020-09947-7 ;PMID: 32915358 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
11	Material Type: Article	Neonatal Screening for Congenital Hypothyroidism: What Can We Learn From Discordant Twins? The journal of clinical endocrinology and metabolism, 2019-12, Vol.104 (12), p.5765-5779 [Peer Reviewed Journal] Copyright © Oxford University Press 2015 ;Copyright © 2019 Endocrine Society. ;COPYRIGHT 2019 Oxford University Press ;Copyright © 2019 Endocrine Society ;ISSN: 0021-972X ;EISSN: 1945-7197 ;DOI: 10.1210/jc.2019-00900 ;PMID: 31287502 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
12	Material Type: Article	Hypoglycemia in patients with congenital muscle disease BMC pediatrics, 2020-02, Vol.20 (1), p.57-7, Article 57 [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: 1471-2431 ;EISSN: 1471-2431 ;DOI: 10.1186/s12887-020-1909-5 ;PMID: 32028919 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
13	Material Type: Article	Genetics of Congenital Isolated TSH Deficiency: Mutation Screening of the Known Causative Genes and a Literature Review The journal of clinical endocrinology and metabolism, 2019-12, Vol.104 (12), p.6229-6237 [Peer Reviewed Journal] Copyright © Oxford University Press 2015 ;Copyright © 2019 Endocrine Society. ;COPYRIGHT 2019 Oxford University Press ;Copyright © 2019 Endocrine Society ;ISSN: 0021-972X ;EISSN: 1945-7197 ;DOI: 10.1210/jc.2019-00657 ;PMID: 31504637 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
14	Material Type: Article	Congenital Hypothyroidism Due to Truncating PAX8 Mutations: A Case Series and Molecular Function Studies The journal of clinical endocrinology and metabolism, 2020-11, Vol.105 (11), p.1-e4065 [Peer Reviewed Journal] Endocrine Society 2020. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com 2020 ;Copyright © Oxford University Press 2015 ;Endocrine Society 2020. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com. ;COPYRIGHT 2020 Oxford University Press ;Endocrine Society 2020. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com ;ISSN: 0021-972X ;EISSN: 1945-7197 ;DOI: 10.1210/clinem/dgaa584 ;PMID: 32841355 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
15	Material Type: Article	Comprehensive analysis of differential immunocyte infiltration and the potential ceRNA networks during epicardial adipose tissue development in congenital heart disease Journal of translational medicine, 2020-03, Vol.18 (1), p.111-111, Article 111 [Peer Reviewed Journal] 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: 1479-5876 ;EISSN: 1479-5876 ;DOI: 10.1186/s12967-020-02279-y ;PMID: 32122382 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
16	Material Type: Article	Two heterozygous mutations in NFATC1 in a patient with Tricuspid Atresia PloS one, 2012-11, Vol.7 (11), p.e49532 [Peer Reviewed Journal] COPYRIGHT 2012 Public Library of Science ;COPYRIGHT 2012 Public Library of Science ;2012 Abdul-Sater et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License: https://creativecommons.org/licenses/by/4.0/ (the “License”), which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. ;2012 Abdul-Sater et al 2012 Abdul-Sater et al ;ISSN: 1932-6203 ;EISSN: 1932-6203 ;DOI: 10.1371/journal.pone.0049532 ;PMID: 23226213 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
17	Material Type: Article	Pancreatic endocrine and exocrine function in children following near-total pancreatectomy for diffuse congenital hyperinsulinism PloS one, 2014-05, Vol.9 (5), p.e98054-e98054 [Peer Reviewed Journal] COPYRIGHT 2014 Public Library of Science ;COPYRIGHT 2014 Public Library of Science ;2014 Arya et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License: http://creativecommons.org/licenses/by/4.0/ (the “License”), which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. ;2014 Arya et al 2014 Arya et al ;ISSN: 1932-6203 ;EISSN: 1932-6203 ;DOI: 10.1371/journal.pone.0098054 ;PMID: 24840042 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
18	Material Type: Article	Deficiency of Dol-P-Man Synthase Subunit DPM3 Bridges the Congenital Disorders of Glycosylation with the Dystroglycanopathies American journal of human genetics, 2009-07, Vol.85 (1), p.76-86 [Peer Reviewed Journal] 2009 The American Society of Human Genetics ;2009 INIST-CNRS ;Copyright University of Chicago, acting through its Press Jul 10, 2009 ;2009 The American Society of Human Genetics. Published by Elsevier Ltd. All right reserved.. 2009 The American Society of Human Genetics ;ISSN: 0002-9297 ;EISSN: 1537-6605 ;DOI: 10.1016/j.ajhg.2009.06.006 ;PMID: 19576565 ;CODEN: AJHGAG Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
19	Material Type: Article	Morphometric changes of the corpus callosum in congenital blindness PloS one, 2014-09, Vol.9 (9), p.e107871-e107871 [Peer Reviewed Journal] COPYRIGHT 2014 Public Library of Science ;COPYRIGHT 2014 Public Library of Science ;2014 Tomaiuolo et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License: http://creativecommons.org/licenses/by/4.0/ (the “License”), which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. ;2014 Tomaiuolo et al 2014 Tomaiuolo et al ;ISSN: 1932-6203 ;EISSN: 1932-6203 ;DOI: 10.1371/journal.pone.0107871 ;PMID: 25255324 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
20	Material Type: Article	Neural and synaptic defects in slytherin, a zebrafish model for human congenital disorders of glycosylation PloS one, 2010-10, Vol.5 (10), p.e13743-e13743 [Peer Reviewed Journal] COPYRIGHT 2010 Public Library of Science ;COPYRIGHT 2010 Public Library of Science ;2010 Song et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License: https://creativecommons.org/licenses/by/4.0/ (the “License”), which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. ;Song et al. 2010 ;ISSN: 1932-6203 ;EISSN: 1932-6203 ;DOI: 10.1371/journal.pone.0013743 ;PMID: 21060795 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by

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Results 1 - 20 of 137,994 for All Library Resources

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

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

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

Springer-Verlag GmbH Germany, part of Springer Nature 2017 ;Molecular Genetics and Genomics is a copyright of Springer, (2017). All Rights Reserved. ;ISSN: 1617-4615 ;EISSN: 1617-4623 ;DOI: 10.1007/s00438-017-1398-x ;PMID: 29196848

Springer Science+Business Media, LLC, part of Springer Nature 2020 ;COPYRIGHT 2021 Springer ;Springer Science+Business Media, LLC, part of Springer Nature 2020. ;ISSN: 0282-0080 ;EISSN: 1573-4986 ;DOI: 10.1007/s10719-020-09947-7 ;PMID: 32915358

Copyright © Oxford University Press 2015 ;Copyright © 2019 Endocrine Society. ;COPYRIGHT 2019 Oxford University Press ;Copyright © 2019 Endocrine Society ;ISSN: 0021-972X ;EISSN: 1945-7197 ;DOI: 10.1210/jc.2019-00900 ;PMID: 31287502

Copyright © Oxford University Press 2015 ;Copyright © 2019 Endocrine Society. ;COPYRIGHT 2019 Oxford University Press ;Copyright © 2019 Endocrine Society ;ISSN: 0021-972X ;EISSN: 1945-7197 ;DOI: 10.1210/jc.2019-00657 ;PMID: 31504637

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