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1	Material Type: Article	This Week in the Journal The New England journal of medicine, 2024-01, Vol.390 (4), p.300 [Peer Reviewed Journal] Copyright © 2024 Massachusetts Medical Society. All rights reserved. ;ISSN: 0028-4793 ;EISSN: 1533-4406 ;DOI: 10.1056/NEJMtwj240125 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
2	Material Type: Article	Consensus Statement: Chromosomal Microarray Is a First-Tier Clinical Diagnostic Test for Individuals with Developmental Disabilities or Congenital Anomalies American journal of human genetics, 2010-05, Vol.86 (5), p.749-764 [Peer Reviewed Journal] 2010 The American Society of Human Genetics ;2015 INIST-CNRS ;Copyright (c) 2010 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved. ;Copyright University of Chicago, acting through its Press May 14, 2010 ;2010 The American Society of Human Genetics. Published by Elsevier Ltd. All right reserved. 2010 The American Society of Human Genetics ;ISSN: 0002-9297 ;ISSN: 1537-6605 ;EISSN: 1537-6605 ;DOI: 10.1016/j.ajhg.2010.04.006 ;PMID: 20466091 ;CODEN: AJHGAG Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
3	Material Type: Article	Pulmonary Hypertension: A Brief Guide for Clinicians Mayo Clinic proceedings, 2020-09, Vol.95 (9), p.1978-1988 [Peer Reviewed Journal] 2020 Mayo Foundation for Medical Education and Research ;Copyright © 2020 Mayo Foundation for Medical Education and Research. Published by Elsevier Inc. All rights reserved. ;COPYRIGHT 2020 Elsevier, Inc. ;Copyright Mayo Foundation for Medical Education and Research Sep 2020 ;ISSN: 0025-6196 ;EISSN: 1942-5546 ;DOI: 10.1016/j.mayocp.2020.04.039 ;PMID: 32861339 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
4	Material Type: Article	Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy Scientific reports, 2019-02, Vol.9 (1), p.1219-1219, Article 1219 [Peer Reviewed Journal] 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) 2019 ;ISSN: 2045-2322 ;EISSN: 2045-2322 ;DOI: 10.1038/s41598-018-38007-2 ;PMID: 30718709 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
5	Material Type: Article	Maternal infection with Zika virus and prevalence of congenital disorders in infants: systematic review and meta-analysis Canadian journal of public health, 2019-10, Vol.110 (5), p.638-648 [Peer Reviewed Journal] The Canadian Public Health Association 2019 ;Canadian Journal of Public Health is a copyright of Springer, (2019). All Rights Reserved. ;ISSN: 0008-4263 ;EISSN: 1920-7476 ;DOI: 10.17269/s41997-019-00215-2 ;PMID: 31077071 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
6	Material Type: Article	Prospective, phenotype-driven selection of critically ill neonates for rapid exome sequencing is associated with high diagnostic yield Genetics in medicine, 2020-04, Vol.22 (4), p.736-744 [Peer Reviewed Journal] 2020 The Author(s) ;American College of Medical Genetics and Genomics 2019. ;ISSN: 1098-3600 ;EISSN: 1530-0366 ;DOI: 10.1038/s41436-019-0708-6 ;PMID: 31780822 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
7	Material Type: Article	Does genomic sequencing early in the diagnostic trajectory make a difference? A follow-up study of clinical outcomes and cost-effectiveness Genetics in medicine, 2019-01, Vol.21 (1), p.173-180 [Peer Reviewed Journal] 2019 The Author(s) ;Copyright Nature Publishing Group Jan 2019 ;American College of Medical Genetics and Genomics 2018. ;ISSN: 1098-3600 ;EISSN: 1530-0366 ;DOI: 10.1038/s41436-018-0006-8 ;PMID: 29765138 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
8	Material Type: Article	Intrauterine Zika virus infection of pregnant immunocompetent mice models transplacental transmission and adverse perinatal outcomes Nature communications, 2017-02, Vol.8 (1), p.14575-14575, Article 14575 [Peer Reviewed Journal] Copyright Nature Publishing Group Feb 2017 ;Copyright © 2017, The Author(s) 2017 The Author(s) ;ISSN: 2041-1723 ;EISSN: 2041-1723 ;DOI: 10.1038/ncomms14575 ;PMID: 28220786 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
9	Material Type: Article	Aspirin for Prevention of Preeclampsia Drugs (New York, N.Y.), 2017-11, Vol.77 (17), p.1819-1831 [Peer Reviewed Journal] The Author(s) 2017 ;Copyright Springer Science & Business Media Nov 2017 ;ISSN: 0012-6667 ;EISSN: 1179-1950 ;DOI: 10.1007/s40265-017-0823-0 ;PMID: 29039130 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
10	Material Type: Article	2018 ACC/AHA/HRS Guideline on the Evaluation and Management of Patients With Bradycardia and Cardiac Conduction Delay: Executive Summary: A Report of the American College of Cardiology/American Heart Association Task Force on Clinical Practice Guidelines, and the Heart Rhythm Society Journal of the American College of Cardiology, 2019-08, Vol.74 (7), p.932-987 [Peer Reviewed Journal] 2019. American College of Cardiology Foundation, the American Heart Association, Inc., and the Heart Rhythm Society ;ISSN: 0735-1097 ;EISSN: 1558-3597 ;DOI: 10.1016/j.jacc.2018.10.043 ;PMID: 30412710 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
11	Material Type: Article	Clinical and genomic characterization of 8p cytogenomic disorders Genetics in medicine, 2021-12, Vol.23 (12), p.2342-2351 [Peer Reviewed Journal] 2021. The Author(s), under exclusive licence to the American College of Medical Genetics and Genomics. ;The Author(s), under exclusive licence to the American College of Medical Genetics and Genomics 2021. ;ISSN: 1098-3600 ;EISSN: 1530-0366 ;DOI: 10.1038/s41436-021-01270-2 ;PMID: 34282301 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
12	Material Type: Article	Nomenclature for congenital and paediatric cardiac disease: the International Paediatric and Congenital Cardiac Code (IPCCC) and the Eleventh Iteration of the International Classification of Diseases (ICD-11) Cardiology in the young, 2017-12, Vol.27 (10), p.1872-1938 [Peer Reviewed Journal] Cambridge University Press 2017 ;ISSN: 1047-9511 ;EISSN: 1467-1107 ;DOI: 10.1017/S1047951117002244 ;PMID: 29286277 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
13	Material Type: Article	Therapeutic approaches in Congenital Disorders of Glycosylation (CDG) involving N-linked glycosylation: an update Genetics in medicine, 2020-02, Vol.22 (2), p.268-279 [Peer Reviewed Journal] 2019© American College of Medical Genetics and Genomics 2019 ;American College of Medical Genetics and Genomics 2019. ;ISSN: 1098-3600 ;EISSN: 1530-0366 ;DOI: 10.1038/s41436-019-0647-2 ;PMID: 31534212 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
14	Material Type: Article	Epidemiology of chronic kidney disease in children Pediatric nephrology (Berlin, West), 2012-03, Vol.27 (3), p.363-373 [Peer Reviewed Journal] The Author(s) 2011 ;COPYRIGHT 2012 Springer ;IPNA 2012 ;ISSN: 0931-041X ;EISSN: 1432-198X ;DOI: 10.1007/s00467-011-1939-1 ;PMID: 21713524 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
15	Material Type: Article	Why is ophthalmology so brilliant? Eye (London), 2023-12, Vol.37 (17), p.3528-3529 [Peer Reviewed Journal] The Author(s) 2023. corrected publication 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, corrected publication 2023 ;ISSN: 0950-222X ;EISSN: 1476-5454 ;DOI: 10.1038/s41433-023-02560-6 ;PMID: 37138095 Digital Resources/Online E-Resources Services Details Recommendations Reviews Times Cited Citations Cited by
16	Material Type: Article	Inherited Nonsyndromic Ichthyoses: An Update on Pathophysiology, Diagnosis and Treatment American journal of clinical dermatology, 2018-02, Vol.19 (1), p.51-66 [Peer Reviewed Journal] The Author(s) 2017 ;Copyright Springer Science & Business Media Feb 2018 ;ISSN: 1175-0561 ;ISSN: 1179-1888 ;EISSN: 1179-1888 ;DOI: 10.1007/s40257-017-0313-x ;PMID: 28815464 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
17	Material Type: Article	A somatic activating NRAS variant associated with kaposiform lymphangiomatosis Genetics in medicine, 2019-07, Vol.21 (7), p.1517-1524 [Peer Reviewed Journal] 2019 The Author(s) ;Copyright Nature Publishing Group Jul 2019 ;ISSN: 1098-3600 ;EISSN: 1530-0366 ;DOI: 10.1038/s41436-018-0390-0 ;PMID: 30542204 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
18	Material Type: Article	Etranacogene Dezaparvovec: First Approval Drugs (New York, N.Y.), 2023-03, Vol.83 (4), p.347-352 [Peer Reviewed Journal] The Author(s), under exclusive licence to Springer Nature Switzerland AG 2023. Springer Nature or its licensor (e.g. a society or other partner) holds exclusive rights to this article under a publishing agreement with the author(s) or other rightsholder(s); author self-archiving of the accepted manuscript version of this article is solely governed by the terms of such publishing agreement and applicable law. ;2023. The Author(s), under exclusive licence to Springer Nature Switzerland AG. ;Copyright Springer Nature B.V. Mar 2023 ;ISSN: 0012-6667 ;EISSN: 1179-1950 ;DOI: 10.1007/s40265-023-01845-0 ;PMID: 36802324 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
19	Material Type: Article	Intravitreal antisense oligonucleotide sepofarsen in Leber congenital amaurosis type 10: a phase 1b/2 trial Nature medicine, 2022-05, Vol.28 (5), p.1014-1021 [Peer Reviewed Journal] 2022. The Author(s). ;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: 1078-8956 ;EISSN: 1546-170X ;DOI: 10.1038/s41591-022-01755-w ;PMID: 35379979 Full text available View Online Details Recommendations Reviews Times Cited External Links Citations Cited by
20	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

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Results 1 - 20 of 3,957 for All Library Resources

Copyright © 2024 Massachusetts Medical Society. All rights reserved. ;ISSN: 0028-4793 ;EISSN: 1533-4406 ;DOI: 10.1056/NEJMtwj240125

The Canadian Public Health Association 2019 ;Canadian Journal of Public Health is a copyright of Springer, (2019). All Rights Reserved. ;ISSN: 0008-4263 ;EISSN: 1920-7476 ;DOI: 10.17269/s41997-019-00215-2 ;PMID: 31077071

2020 The Author(s) ;American College of Medical Genetics and Genomics 2019. ;ISSN: 1098-3600 ;EISSN: 1530-0366 ;DOI: 10.1038/s41436-019-0708-6 ;PMID: 31780822

2019 The Author(s) ;Copyright Nature Publishing Group Jan 2019 ;American College of Medical Genetics and Genomics 2018. ;ISSN: 1098-3600 ;EISSN: 1530-0366 ;DOI: 10.1038/s41436-018-0006-8 ;PMID: 29765138

Copyright Nature Publishing Group Feb 2017 ;Copyright © 2017, The Author(s) 2017 The Author(s) ;ISSN: 2041-1723 ;EISSN: 2041-1723 ;DOI: 10.1038/ncomms14575 ;PMID: 28220786

The Author(s) 2017 ;Copyright Springer Science & Business Media Nov 2017 ;ISSN: 0012-6667 ;EISSN: 1179-1950 ;DOI: 10.1007/s40265-017-0823-0 ;PMID: 29039130

2019. American College of Cardiology Foundation, the American Heart Association, Inc., and the Heart Rhythm Society ;ISSN: 0735-1097 ;EISSN: 1558-3597 ;DOI: 10.1016/j.jacc.2018.10.043 ;PMID: 30412710

2021. The Author(s), under exclusive licence to the American College of Medical Genetics and Genomics. ;The Author(s), under exclusive licence to the American College of Medical Genetics and Genomics 2021. ;ISSN: 1098-3600 ;EISSN: 1530-0366 ;DOI: 10.1038/s41436-021-01270-2 ;PMID: 34282301

Cambridge University Press 2017 ;ISSN: 1047-9511 ;EISSN: 1467-1107 ;DOI: 10.1017/S1047951117002244 ;PMID: 29286277

2019© American College of Medical Genetics and Genomics 2019 ;American College of Medical Genetics and Genomics 2019. ;ISSN: 1098-3600 ;EISSN: 1530-0366 ;DOI: 10.1038/s41436-019-0647-2 ;PMID: 31534212

The Author(s) 2011 ;COPYRIGHT 2012 Springer ;IPNA 2012 ;ISSN: 0931-041X ;EISSN: 1432-198X ;DOI: 10.1007/s00467-011-1939-1 ;PMID: 21713524

The Author(s) 2017 ;Copyright Springer Science & Business Media Feb 2018 ;ISSN: 1175-0561 ;ISSN: 1179-1888 ;EISSN: 1179-1888 ;DOI: 10.1007/s40257-017-0313-x ;PMID: 28815464

2019 The Author(s) ;Copyright Nature Publishing Group Jul 2019 ;ISSN: 1098-3600 ;EISSN: 1530-0366 ;DOI: 10.1038/s41436-018-0390-0 ;PMID: 30542204

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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