Result Number | Material Type | Add to My Shelf Action | Record Details and Options |
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21 |
Material Type: Article
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Aarskog-Scott syndrome: Confirmation of linkage to the pericentromeric region of the X chromosomeAmerican journal of medical genetics, 1994-09, Vol.52 (3), p.339-345 [Peer Reviewed Journal]Copyright © 1994 Wiley‐Liss, Inc., A Wiley Company ;1994 INIST-CNRS ;ISSN: 0148-7299 ;EISSN: 1096-8628 ;DOI: 10.1002/ajmg.1320520317 ;PMID: 7810566 ;CODEN: AJMGDAFull text available |
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22 |
Material Type: Article
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ABCC6 MRP6 mutations: further insight into the molecular pathology of pseudoxanthoma elasticumEuropean journal of human genetics : EJHG, 2003-03, Vol.11 (3), p.215-224 [Peer Reviewed Journal]2003 INIST-CNRS ;Copyright Nature Publishing Group Mar 2003 ;ISSN: 1018-4813 ;EISSN: 1476-5438 ;DOI: 10.1038/sj.ejhg.5200953 ;PMID: 12673275Full text available |
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23 |
Material Type: Article
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Abernethy malformation and hepatocellular carcinoma: a serious consequence of a rare diseaseBMJ case reports, 2020-01, Vol.13 (1), p.e231843 [Peer Reviewed Journal]BMJ Publishing Group Limited 2020. No commercial re-use. See rights and permissions. Published by BMJ. ;2020 BMJ Publishing Group Limited 2020. No commercial re-use. See rights and permissions. Published by BMJ. ;BMJ Publishing Group Limited 2020. No commercial re-use. See rights and permissions. Published by BMJ. 2020 ;ISSN: 1757-790X ;EISSN: 1757-790X ;DOI: 10.1136/bcr-2019-231843 ;PMID: 31911408Full text available |
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24 |
Material Type: Article
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Aberrant Splicing Events Associated to CDH23 Noncanonical Splice Site Mutations in a Proband with Atypical Usher Syndrome 1Genes, 2019-09, Vol.10 (10), p.732 [Peer Reviewed Journal]2019 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 (http://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. ;2019 by the authors. 2019 ;ISSN: 2073-4425 ;EISSN: 2073-4425 ;DOI: 10.3390/genes10100732 ;PMID: 31546658Full text available |
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25 |
Material Type: Article
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Abnormal anatomy and airway managementEuropean journal of anaesthesiology, 2008-06, Vol.25 (6), p.522 [Peer Reviewed Journal]EISSN: 1365-2346 ;DOI: 10.1017/S0265021508003797 ;PMID: 18289448Digital Resources/Online E-Resources |
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26 |
Material Type: Article
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ABNORMAL ANDROGEN AND OESTROGEN METABOLISM IN MEN WITH STEROID SULPHATASE DEFICIENCY AND RECESSIVE X-LINKED ICHTHYOSISClinical endocrinology (Oxford), 1985-10, Vol.23 (4), p.385-393 [Peer Reviewed Journal]1986 INIST-CNRS ;ISSN: 0300-0664 ;EISSN: 1365-2265 ;DOI: 10.1111/j.1365-2265.1985.tb01096.x ;PMID: 3864567 ;CODEN: CLECAPFull text available |
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27 |
Material Type: Article
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Abnormal essential fatty acid metabolism in Darier's diseaseArchives of dermatology (1960), 1990-10, Vol.126 (10), p.1308ISSN: 0003-987X ;EISSN: 1538-3652 ;DOI: 10.1001/archderm.1990.01670340060008 ;PMID: 1977367Digital Resources/Online E-Resources |
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28 |
Material Type: Article
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Abnormal Lamellar Granules in Harlequin IchthyosisJournal of investigative dermatology, 1992-12, Vol.99 (6), p.824-829 [Peer Reviewed Journal]1992 The Society for Investigative Dermatology, Inc ;1993 INIST-CNRS ;ISSN: 0022-202X ;EISSN: 1523-1747 ;DOI: 10.1111/1523-1747.ep12614791 ;PMID: 1281866 ;CODEN: JIDEAEFull text available |
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29 |
Material Type: Article
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Abnormal subcortical activity in congenital mirror movement disorder with RAD51 mutationDiagnostic and interventional radiology (Ankara, Turkey), 2018-11, Vol.24 (6), p.392-401 [Peer Reviewed Journal]COPYRIGHT 2018 Galenos Yayinevi Tic. Ltd. ;2018. Notwithstanding the ProQuest Terms and conditions, you may use this content in accordance with the associated terms available at http://www.dirjournal.org/eng/makale/1954/100/Full-Text ;Copyright 2018 by the Turkish Society of Radiology 2018 ;ISSN: 1305-3612 ;ISSN: 1305-3825 ;EISSN: 1305-3612 ;DOI: 10.5152/dir.2018.18096 ;PMID: 30406765Full text available |
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30 |
Material Type: Article
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Abnormalities in pulmonary function and volumes in patients with CHD: a systematic reviewCardiology in the young, 2023-02, Vol.33 (2), p.169-181 [Peer Reviewed Journal]The Author(s), 2023. Published by Cambridge University Press ;ISSN: 1047-9511 ;EISSN: 1467-1107 ;DOI: 10.1017/S1047951122004103 ;PMID: 36601957Full text available |
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31 |
Material Type: Article
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Abnormalities of differentiation and maturation in the oesophageal squamous epithelium of patients with tylosis: morphological featuresHistopathology, 1991-10, Vol.19 (4), p.303-310 [Peer Reviewed Journal]1992 INIST-CNRS ;ISSN: 0309-0167 ;EISSN: 1365-2559 ;DOI: 10.1111/j.1365-2559.1991.tb00044.x ;PMID: 1937410Full text available |
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32 |
Material Type: Article
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Absence of a sphenoid wing in neurofibromatosis type 1 disease: imaging with multidetector computed tomographyKorean journal of radiology, 2006-01, Vol.7 (1), p.70-722006. This work is published under http://creativecommons.org/licenses/by-nc/3.0 (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. ;Copyright © 2006 The Korean Radiological Society 2006 ;ISSN: 1229-6929 ;EISSN: 2005-8330 ;DOI: 10.3348/kjr.2006.7.1.70 ;PMID: 16549958Full text available |
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33 |
Material Type: Article
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Absence of Evidence of Zika Virus Infection in Cord Blood and Urine from Newborns with Congenital Abnormalities, IndonesiaThe American journal of tropical medicine and hygiene, 2020-04, Vol.102 (4), p.876-879 [Peer Reviewed Journal]Copyright Institute of Tropical Medicine Apr 2020 ;The American Society of Tropical Medicine and Hygiene 2020 ;ISSN: 0002-9637 ;EISSN: 1476-1645 ;DOI: 10.4269/ajtmh.19-0593 ;PMID: 32043460Full text available |
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34 |
Material Type: Article
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Absence of induction of enhanced reactivation of herpes simplex virus in cells from Xeroderma pigmentosum patients without skin cancerCancer research (Chicago, Ill.), 1988-11, Vol.48 (21), p.6054-6057 [Peer Reviewed Journal]1989 INIST-CNRS ;ISSN: 0008-5472 ;EISSN: 1538-7445 ;PMID: 2844398 ;CODEN: CNREA8Full text available |
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35 |
Material Type: Article
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Absent meibomian glands: A marker for EEC syndromeEye (London), 1996-01, Vol.10 (3), p.355-361 [Peer Reviewed Journal]1996 INIST-CNRS ;ISSN: 0950-222X ;EISSN: 1476-5454 ;DOI: 10.1038/eye.1996.73 ;PMID: 8796162 ;CODEN: EYEEECDigital Resources/Online E-Resources |
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36 |
Material Type: Article
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Acanthosis nigricans in monozygotic twins with post receptor defects causing insulin resistanceClinical and experimental dermatology, 1985-07, Vol.10 (4), p.358-364 [Peer Reviewed Journal]1985 INIST-CNRS ;ISSN: 0307-6938 ;EISSN: 1365-2230 ;DOI: 10.1111/j.1365-2230.1985.tb00582.x ;PMID: 4042408 ;CODEN: CEDEDEFull text available |
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37 |
Material Type: Article
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ACC/AHA 2008 guidelines for the management of adults with congenital heart disease: a report of the American College of Cardiology/American Heart Association Task Force on Practice Guidelines (Writing Committee to Develop Guidelines on the Management of Adults With Congenital Heart Disease). Developed in Collaboration With the American Society of Echocardiography, Heart Rhythm Society, International Society for Adult Congenital Heart Disease, Society for Cardiovascular Angiography and InterventiJournal of the American College of Cardiology, 2008-12, Vol.52 (23), p.e143-e263 [Peer Reviewed Journal]Copyright Elsevier Limited Dec 2, 2008 ;ISSN: 0735-1097 ;EISSN: 1558-3597 ;DOI: 10.1016/j.jacc.2008.10.001 ;PMID: 19038677Full text available |
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38 |
Material Type: Article
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Acceptability of a parental early warning tool for parents of infants with complex congenital heart disease: a qualitative feasibility studyArchives of disease in childhood, 2018-09, Vol.103 (9), p.880-886 [Peer Reviewed Journal]Article author(s) (or their employer(s) unless otherwise stated in the text of the article) 2018. All rights reserved. No commercial use is permitted unless otherwise expressly granted. ;2018 Article author(s) (or their employer(s) unless otherwise stated in the text of the article) 2018. All rights reserved. No commercial use is permitted unless otherwise expressly granted. ;ISSN: 0003-9888 ;EISSN: 1468-2044 ;DOI: 10.1136/archdischild-2017-313227 ;PMID: 29567664Full text available |
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39 |
Material Type: Article
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Accessory Cardiac BronchusLung, 2014-10, Vol.192 (5), p.821-822 [Peer Reviewed Journal]Springer Science+Business Media New York 2014 ;COPYRIGHT 2014 Springer ;ISSN: 0341-2040 ;EISSN: 1432-1750 ;DOI: 10.1007/s00408-014-9617-2 ;PMID: 25001980 ;CODEN: LUNGD9Full text available |
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40 |
Material Type: Article
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Accounting for a quantitative trait locus for plasma triglyceride levels: utilization of variants in multiple genesPloS one, 2012-04, Vol.7 (4), p.e34614-e34614 [Peer Reviewed Journal]COPYRIGHT 2012 Public Library of Science ;COPYRIGHT 2012 Public Library of Science ;2012 Martin 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. ;Martin et al. 2012 ;ISSN: 1932-6203 ;EISSN: 1932-6203 ;DOI: 10.1371/journal.pone.0034614 ;PMID: 22485179Full text available |