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The New England Journal Of Medicine
| Result Number | Material Type | Add to My Shelf Action | Record Details and Options |
|---|---|---|---|
| 1 |
Material Type: Article
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Glycosylation, Hypogammaglobulinemia, and Resistance to Viral InfectionsThe New England journal of medicine, 2014-04, Vol.370 (17), p.1615-1625 [Peer Reviewed Journal]Copyright © 2014 Massachusetts Medical Society. All rights reserved. ;2015 INIST-CNRS ;Copyright © 2014 Massachusetts Medical Society. 2014 ;ISSN: 0028-4793 ;EISSN: 1533-4406 ;DOI: 10.1056/NEJMoa1302846 ;PMID: 24716661 ;CODEN: NEJMAGFull text available |
| 2 |
Material Type: Article
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Multiple Phenotypes in Phosphoglucomutase 1 DeficiencyThe New England journal of medicine, 2014-02, Vol.370 (6), p.533-542 [Peer Reviewed Journal]Copyright © 2014 Massachusetts Medical Society. All rights reserved. ;2015 INIST-CNRS ;Copyright © 2014 Massachusetts Medical Society. 2014 ;ISSN: 0028-4793 ;EISSN: 1533-4406 ;DOI: 10.1056/NEJMoa1206605 ;PMID: 24499211 ;CODEN: NEJMAGFull text available |
| 3 |
Material Type: Article
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Rapid Sequencing-Based Diagnosis of Thiamine Metabolism Dysfunction SyndromeThe New England journal of medicine, 2021-06, Vol.384 (22), p.2159-2161 [Peer Reviewed Journal]Copyright © 2021 Massachusetts Medical Society. All rights reserved. ;ISSN: 0028-4793 ;EISSN: 1533-4406 ;DOI: 10.1056/NEJMc2100365 ;PMID: 34077649Full text available |
| 4 |
Material Type: Article
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Congenital heart disease in adults : First of two partsThe New England journal of medicine, 2000-01, Vol.342 (4), p.256-263 [Peer Reviewed Journal]2000 INIST-CNRS ;Copyright © 2000 Massachusetts Medical Society. All rights reserved. ;ISSN: 0028-4793 ;EISSN: 1533-4406 ;DOI: 10.1056/NEJM200001273420407 ;PMID: 10648769 ;CODEN: NEJMAGFull text available |
| 5 |
Material Type: Article
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Autoimmune Polyendocrine SyndromesThe New England journal of medicine, 2018-03, Vol.378 (12), p.1132-1141 [Peer Reviewed Journal]Copyright © 2018 Massachusetts Medical Society. All rights reserved. ;ISSN: 0028-4793 ;ISSN: 1533-4406 ;EISSN: 1533-4406 ;DOI: 10.1056/NEJMra1713301 ;PMID: 29562162Full text available |
| 6 |
Material Type: Article
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Developmental Consequences of Defective ATG7-Mediated Autophagy in HumansThe New England journal of medicine, 2021-06, Vol.384 (25), p.2406-2417 [Peer Reviewed Journal]Copyright © 2021 Massachusetts Medical Society. All rights reserved. ;Copyright © 2021 Massachusetts Medical Society. ;ISSN: 0028-4793 ;EISSN: 1533-4406 ;DOI: 10.1056/NEJMoa1915722 ;PMID: 34161705Full text available |
| 7 |
Material Type: Article
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Mutations in the Cystic Fibrosis Gene in Patients with Congenital Absence of the Vas DeferensThe New England journal of medicine, 1995-06, Vol.332 (22), p.1475-1480 [Peer Reviewed Journal]Copyright © 1995 Massachusetts Medical Society. All rights reserved. ;1995 INIST-CNRS ;(c) Massachusetts Medical Society, 1995 info:eu-repo/semantics/openAccess ;ISSN: 0028-4793 ;EISSN: 1533-4406 ;DOI: 10.1056/NEJM199506013322204 ;PMID: 7739684 ;CODEN: NEJMAGFull text available |
| 8 |
Material Type: Article
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Congenital Heart Disease in AdultsThe New England journal of medicine, 2000-02, Vol.342 (5), p.334-342 [Peer Reviewed Journal]Copyright © 2000 Massachusetts Medical Society. All rights reserved. ;ISSN: 0028-4793 ;EISSN: 1533-4406 ;DOI: 10.1056/NEJM200002033420507Full text available |
| 9 |
Material Type: Article
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TBX6 Null Variants and a Common Hypomorphic Allele in Congenital ScoliosisThe New England journal of medicine, 2015-01, Vol.372 (4), p.341-350 [Peer Reviewed Journal]Copyright © 2015 Massachusetts Medical Society. All rights reserved. ;Copyright © 2015 Massachusetts Medical Society. All rights reserved 2015 ;ISSN: 0028-4793 ;EISSN: 1533-4406 ;DOI: 10.1056/NEJMoa1406829 ;PMID: 25564734Full text available |
| 10 |
Material Type: Article
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Congenital Adrenal Hyperplasia Due to 21-Hydroxylase DeficiencyThe New England journal of medicine, 2020-09, Vol.383 (13), p.1248-1261 [Peer Reviewed Journal]Copyright © 2020 Massachusetts Medical Society. All rights reserved. ;ISSN: 0028-4793 ;EISSN: 1533-4406 ;DOI: 10.1056/NEJMra1909786Full text available |
| 11 |
Material Type: Article
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Cytokinesis, Beta-Blockers, and Congenital Heart DiseaseThe New England journal of medicine, 2020-01, Vol.382 (3), p.291-293 [Peer Reviewed Journal]Copyright © 2020 Massachusetts Medical Society. All rights reserved. ;ISSN: 0028-4793 ;EISSN: 1533-4406 ;DOI: 10.1056/NEJMcibr1913824 ;PMID: 31940705Full text available |
| 12 |
Material Type: Article
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Sturge–Weber Syndrome and Port-Wine Stains Caused by Somatic Mutation in GNAQThe New England journal of medicine, 2013-05, Vol.368 (21), p.1971-1979 [Peer Reviewed Journal]Copyright © 2013 Massachusetts Medical Society. All rights reserved. ;2014 INIST-CNRS ;Copyright © 2013 Massachusetts Medical Society. 2013 ;ISSN: 0028-4793 ;EISSN: 1533-4406 ;DOI: 10.1056/NEJMoa1213507 ;PMID: 23656586 ;CODEN: NEJMAGFull text available |
| 13 |
Material Type: Article
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Valganciclovir for Symptomatic Congenital Cytomegalovirus DiseaseThe New England journal of medicine, 2015-03, Vol.372 (10), p.933-943 [Peer Reviewed Journal]Copyright © 2015 Massachusetts Medical Society. All rights reserved. ;Copyright © 2015 Massachusetts Medical Society. 2015 ;ISSN: 0028-4793 ;EISSN: 1533-4406 ;DOI: 10.1056/NEJMoa1404599 ;PMID: 25738669Full text available |
| 14 |
Material Type: Article
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NAD Deficiency, Congenital Malformations, and Niacin SupplementationThe New England journal of medicine, 2017-08, Vol.377 (6), p.544-552 [Peer Reviewed Journal]Copyright © 2017 Massachusetts Medical Society. All rights reserved. ;ISSN: 0028-4793 ;EISSN: 1533-4406 ;DOI: 10.1056/NEJMoa1616361 ;PMID: 28792876Full text available |
| 15 |
Material Type: Article
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Abnormal Brain Development in Newborns with Congenital Heart DiseaseThe New England journal of medicine, 2007-11, Vol.357 (19), p.1928-1938 [Peer Reviewed Journal]Copyright © 2007 Massachusetts Medical Society. All rights reserved. ;2007 INIST-CNRS ;Copyright 2007 Massachusetts Medical Society. ;ISSN: 0028-4793 ;EISSN: 1533-4406 ;DOI: 10.1056/NEJMoa067393 ;PMID: 17989385 ;CODEN: NEJMAGFull text available |
| 16 |
Material Type: Article
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Congenital Hypermetabolism and Uncoupled Oxidative PhosphorylationThe New England journal of medicine, 2022-10, Vol.387 (15), p.1395-1403 [Peer Reviewed Journal]Copyright © 2022 Massachusetts Medical Society. All rights reserved. ;Copyright © 2022 Massachusetts Medical Society. ;COPYRIGHT 2022 Massachusetts Medical Society ;ISSN: 0028-4793 ;EISSN: 1533-4406 ;DOI: 10.1056/NEJMoa2202949 ;PMID: 36239646Full text available |
| 17 |
Material Type: Article
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Clinical Diagnosis by Whole-Genome Sequencing of a Prenatal SampleThe New England journal of medicine, 2012-12, Vol.367 (23), p.2226-2232 [Peer Reviewed Journal]Copyright © 2012 Massachusetts Medical Society. All rights reserved. ;2014 INIST-CNRS ;Copyright © 2012 Massachusetts Medical Society. 2012 ;ISSN: 0028-4793 ;EISSN: 1533-4406 ;DOI: 10.1056/NEJMoa1208594 ;PMID: 23215558 ;CODEN: NEJMAGFull text available |
| 18 |
Material Type: Article
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Pulmonary Arterial HypertensionThe New England journal of medicine, 2021-12, Vol.385 (25), p.2361-2376 [Peer Reviewed Journal]Copyright © 2021 Massachusetts Medical Society. All rights reserved. ;COPYRIGHT 2021 Massachusetts Medical Society ;ISSN: 0028-4793 ;EISSN: 1533-4406 ;DOI: 10.1056/NEJMra2000348 ;PMID: 34910865Full text available |
| 19 |
Material Type: Article
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Integrin α3 Mutations with Kidney, Lung, and Skin DiseaseThe New England journal of medicine, 2012-04, Vol.366 (16), p.1508-1514 [Peer Reviewed Journal]Copyright © 2012 Massachusetts Medical Society. All rights reserved. ;2015 INIST-CNRS ;Copyright © 2012 Massachusetts Medical Society. 2012 ;ISSN: 0028-4793 ;EISSN: 1533-4406 ;DOI: 10.1056/NEJMoa1110813 ;PMID: 22512483 ;CODEN: NEJMAGFull text available |
| 20 |
Material Type: Article
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Neonatal SeizuresThe New England journal of medicine, 2023-05, Vol.388 (18), p.1692-1700 [Peer Reviewed Journal]Copyright © 2023 Massachusetts Medical Society. All rights reserved. ;ISSN: 0028-4793 ;EISSN: 1533-4406 ;DOI: 10.1056/NEJMra2300188 ;PMID: 37133587Full text available |
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