Result Number | Material Type | Add to My Shelf Action | Record Details and Options |
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61 |
Material Type: Article
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S3681 Congenital Hepatic Fibrosis in AdulthoodThe American journal of gastroenterology, 2023-10, Vol.118 (10S), p.S2385-S2385 [Peer Reviewed Journal]2023 by The American College of Gastroenterology ;ISSN: 0002-9270 ;EISSN: 1572-0241 ;DOI: 10.14309/01.ajg.0000964364.18595.aeDigital Resources/Online E-Resources |
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62 |
Material Type: Article
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Myopathology of Isolated Congenital PtosisCanadian journal of neurological sciences, 2017-02, Vol.44 (S1), p.S6-S7 [Peer Reviewed Journal]Copyright © The Canadian Journal of Neurological Sciences Inc. 2017 ;ISSN: 0317-1671 ;EISSN: 2057-0155 ;DOI: 10.1017/cjn.2017.18Full text available |
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63 |
Material Type: Article
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Gene therapy comes of ageScience (American Association for the Advancement of Science), 2018-01, Vol.359 (6372) [Peer Reviewed Journal]Copyright © 2018 The Authors, some rights reserved; exclusive licensee American Association for the Advancement of Science. No claim to original U.S. Government Works. ;Copyright © 2018 The Authors, some rights reserved; exclusive licensee American Association for the Advancement of Science. No claim to original U.S. Government Works ;ISSN: 0036-8075 ;EISSN: 1095-9203 ;DOI: 10.1126/science.aan4672 ;PMID: 29326244Digital Resources/Online E-Resources |
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64 |
Material Type: Article
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Genetics and Genomics of Congenital Heart DiseaseCirculation research, 2017-03, Vol.120 (6), p.923-940 [Peer Reviewed Journal]2017 American Heart Association, Inc. ;Copyright Lippincott Williams & Wilkins Ovid Technologies Mar 17, 2017 ;ISSN: 0009-7330 ;EISSN: 1524-4571 ;DOI: 10.1161/circresaha.116.309140 ;PMID: 28302740Full text available |
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65 |
Material Type: Article
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Molecular findings from 537 individuals with inherited retinal diseaseJournal of medical genetics, 2016-11, Vol.53 (11), p.761-767 [Peer Reviewed Journal]Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://www.bmj.com/company/products-services/rights-and-licensing ;Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://www.bmj.com/company/products-services/rights-and-licensing/. ;Copyright: 2016 Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://www.bmj.com/company/products-services/rights-and-licensing ;Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://www.bmj.com/company/products-services/rights-and-licensing/ 2016 ;ISSN: 0022-2593 ;EISSN: 1468-6244 ;DOI: 10.1136/jmedgenet-2016-103837 ;PMID: 27208204 ;CODEN: JMDGAEFull text available |
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66 |
Material Type: Article
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Integrative Genomics Implicates Genetic Disruption of Prenatal Neurogenesis in Congenital HydrocephalusNeurosurgery, 2020-12, Vol.67 (Supplement_1) [Peer Reviewed Journal]Copyright © 2020 by the Congress of Neurological Surgeons 2020 ;Copyright © 2020 by the Congress of Neurological Surgeons ;ISSN: 0148-396X ;EISSN: 1524-4040 ;DOI: 10.1093/neuros/nyaa447_572Full text available |
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67 |
Material Type: Article
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The mechanisms of Hedgehog signalling and its roles in development and diseaseNature reviews. Molecular cell biology, 2013-07, Vol.14 (7), p.416-429 [Peer Reviewed Journal]COPYRIGHT 2013 Nature Publishing Group ;COPYRIGHT 2013 Nature Publishing Group ;Copyright Nature Publishing Group Jul 2013 ;Distributed under a Creative Commons Attribution 4.0 International License ;ISSN: 1471-0072 ;EISSN: 1471-0080 ;DOI: 10.1038/nrm3598 ;PMID: 23719536Full text available |
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68 |
Material Type: Article
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Neurodevelopmental outcome at 5 years of age after general anaesthesia or awake-regional anaesthesia in infancy (GAS): an international, multicentre, randomised, controlled equivalence trialThe Lancet (British edition), 2019-02, Vol.393 (10172), p.664-677 [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 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. ;ISSN: 0140-6736 ;EISSN: 1474-547X ;DOI: 10.1016/S0140-6736(18)32485-1 ;PMID: 30782342Full text available |
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69 |
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 |
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70 |
Material Type: Article
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108. ADDITIONAL PATHOGENIC IRF6 MUTATIONS IN VAN DER WOUDE SYNDROME FROM SUB-SAHARAN AFRICAN POPULATIONSThe Cleft palate-craniofacial journal, 2016-07, Vol.53 (4), p.E127 [Peer Reviewed Journal]Copyright Allen Press Publishing Services Jul 2016 ;ISSN: 1055-6656 ;EISSN: 1545-1569 ;CODEN: CPJOEGFull text available |
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71 |
Material Type: Article
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The Major Causes of Death in Children and Adolescents in the United StatesThe New England journal of medicine, 2018-12, Vol.379 (25), p.2468-2475 [Peer Reviewed Journal]Copyright © 2018 Massachusetts Medical Society. All rights reserved. ;ISSN: 0028-4793 ;EISSN: 1533-4406 ;DOI: 10.1056/NEJMsr1804754 ;PMID: 30575483Full text available |
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72 |
Material Type: Article
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FETAL ECHOCARDIOGRAPHY - THE FIRST OR SKIPPED STEP IN CARDIOLOGYActa medica Saliniana, 2022-01, Vol.52, p.26-26 [Peer Reviewed Journal]Copyright University Clinical Center Tuzla 2022 ;ISSN: 0350-364X ;EISSN: 1840-3956Full text available |
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73 |
Material Type: Article
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SPARK: A US Cohort of 50,000 Families to Accelerate Autism ResearchNeuron (Cambridge, Mass.), 2018-02, Vol.97 (3), p.488-493 [Peer Reviewed Journal]2018 Elsevier Inc. ;Copyright © 2018 Elsevier Inc. All rights reserved. ;Copyright Elsevier Limited Feb 7, 2018 ;ISSN: 0896-6273 ;EISSN: 1097-4199 ;DOI: 10.1016/j.neuron.2018.01.015 ;PMID: 29420931Full text available |
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74 |
Material Type: Article
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Formation of new chromatin domains determines pathogenicity of genomic duplicationsNature (London), 2016-10, Vol.538 (7624), p.265-269 [Peer Reviewed Journal]COPYRIGHT 2016 Nature Publishing Group ;COPYRIGHT 2016 Nature Publishing Group ;Copyright Nature Publishing Group Oct 13, 2016 ;ISSN: 0028-0836 ;EISSN: 1476-4687 ;DOI: 10.1038/nature19800 ;PMID: 27706140 ;CODEN: NATUASFull text available |
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75 |
Material Type: Article
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23 The first description of a smartphone-based evaluation of the conjunctival microcirculation in patients presenting with acute myocardial infarctionHeart (British Cardiac Society), 2020-10, Vol.106 (Suppl 4), p.A15-A16 [Peer Reviewed Journal]Author(s) (or their employer(s)) 2020. No commercial re-use. See rights and permissions. Published by BMJ. ;2020 Author(s) (or their employer(s)) 2020. No commercial re-use. See rights and permissions. Published by BMJ. ;ISSN: 1355-6037 ;EISSN: 1468-201X ;DOI: 10.1136/heartjnl-2020-ICS.23Full text available |
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76 |
Material Type: Article
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4 Predictors of ventricular arrhythmia identified from follow up of tetralogy of fallotHeart (British Cardiac Society), 2020-10, Vol.106 (Suppl 4), p.A2-A3 [Peer Reviewed Journal]Author(s) (or their employer(s)) 2020. No commercial re-use. See rights and permissions. Published by BMJ. ;2020 Author(s) (or their employer(s)) 2020. No commercial re-use. See rights and permissions. Published by BMJ. ;ISSN: 1355-6037 ;EISSN: 1468-201X ;DOI: 10.1136/heartjnl-2020-ICS.4Full text available |
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77 |
Material Type: Article
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Expert consensus document: European Consensus Statement on congenital hypogonadotropic hypogonadism--pathogenesis, diagnosis and treatmentNature reviews. Endocrinology, 2015-09, Vol.11 (9), p.547-564 [Peer Reviewed Journal]Copyright Nature Publishing Group Sep 2015 ;ISSN: 1759-5029 ;EISSN: 1759-5037 ;DOI: 10.1038/nrendo.2015.112 ;PMID: 26194704Full text available |
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78 |
Material Type: Article
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Chiari I Malformation and Intramedullary Hemorrhage in a female Patient with Klippel Trenaunay Syndrome: A Rare Case Report StudyInternational journal of caring sciences, 2024-01, Vol.17 (1), p.603-609 [Peer Reviewed Journal]2024. This work is published under https://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: 1791-5201 ;EISSN: 1792-037XFull text available |
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79 |
Material Type: Article
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De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomaliesScience (American Association for the Advancement of Science), 2015-12, Vol.350 (6265), p.1262-1266 [Peer Reviewed Journal]Copyright © 2015 American Association for the Advancement of Science ;Copyright © 2015, American Association for the Advancement of Science. ;Copyright © 2015, American Association for the Advancement of Science ;ISSN: 0036-8075 ;EISSN: 1095-9203 ;DOI: 10.1126/science.aac9396 ;PMID: 26785492 ;CODEN: SCIEASDigital Resources/Online E-Resources |
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80 |
Material Type: Article
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Use of Exome Sequencing for Infants in Intensive Care Units: Ascertainment of Severe Single-Gene Disorders and Effect on Medical ManagementJAMA pediatrics, 2017-12, Vol.171 (12), p.e173438 [Peer Reviewed Journal]EISSN: 2168-6211 ;DOI: 10.1001/jamapediatrics.2017.3438 ;PMID: 28973083Digital Resources/Online E-Resources |