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Results 21 - 40 of 4,379  for All Library Resources

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21
Aarskog-Scott syndrome: Confirmation of linkage to the pericentromeric region of the X chromosome
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Aarskog-Scott syndrome: Confirmation of linkage to the pericentromeric region of the X chromosome

American 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: AJMGDA

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22
ABCC6 MRP6 mutations: further insight into the molecular pathology of pseudoxanthoma elasticum
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ABCC6 MRP6 mutations: further insight into the molecular pathology of pseudoxanthoma elasticum

European 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: 12673275

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23
Abernethy malformation and hepatocellular carcinoma: a serious consequence of a rare disease
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Abernethy malformation and hepatocellular carcinoma: a serious consequence of a rare disease

BMJ 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: 31911408

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24
Aberrant Splicing Events Associated to CDH23 Noncanonical Splice Site Mutations in a Proband with Atypical Usher Syndrome 1
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Article
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Aberrant Splicing Events Associated to CDH23 Noncanonical Splice Site Mutations in a Proband with Atypical Usher Syndrome 1

Genes, 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: 31546658

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25
Abnormal anatomy and airway management
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Article
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Abnormal anatomy and airway management

European journal of anaesthesiology, 2008-06, Vol.25 (6), p.522 [Peer Reviewed Journal]

EISSN: 1365-2346 ;DOI: 10.1017/S0265021508003797 ;PMID: 18289448

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26
ABNORMAL ANDROGEN AND OESTROGEN METABOLISM IN MEN WITH STEROID SULPHATASE DEFICIENCY AND RECESSIVE X-LINKED ICHTHYOSIS
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ABNORMAL ANDROGEN AND OESTROGEN METABOLISM IN MEN WITH STEROID SULPHATASE DEFICIENCY AND RECESSIVE X-LINKED ICHTHYOSIS

Clinical 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: CLECAP

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27
Abnormal essential fatty acid metabolism in Darier's disease
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Article
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Abnormal essential fatty acid metabolism in Darier's disease

Archives of dermatology (1960), 1990-10, Vol.126 (10), p.1308

ISSN: 0003-987X ;EISSN: 1538-3652 ;DOI: 10.1001/archderm.1990.01670340060008 ;PMID: 1977367

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28
Abnormal Lamellar Granules in Harlequin Ichthyosis
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Abnormal Lamellar Granules in Harlequin Ichthyosis

Journal 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: JIDEAE

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29
Abnormal subcortical activity in congenital mirror movement disorder with RAD51 mutation
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Abnormal subcortical activity in congenital mirror movement disorder with RAD51 mutation

Diagnostic 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: 30406765

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30
Abnormalities in pulmonary function and volumes in patients with CHD: a systematic review
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Abnormalities in pulmonary function and volumes in patients with CHD: a systematic review

Cardiology 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: 36601957

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31
Abnormalities of differentiation and maturation in the oesophageal squamous epithelium of patients with tylosis: morphological features
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Abnormalities of differentiation and maturation in the oesophageal squamous epithelium of patients with tylosis: morphological features

Histopathology, 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: 1937410

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32
Absence of a sphenoid wing in neurofibromatosis type 1 disease: imaging with multidetector computed tomography
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Absence of a sphenoid wing in neurofibromatosis type 1 disease: imaging with multidetector computed tomography

Korean journal of radiology, 2006-01, Vol.7 (1), p.70-72

2006. 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: 16549958

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33
Absence of Evidence of Zika Virus Infection in Cord Blood and Urine from Newborns with Congenital Abnormalities, Indonesia
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Absence of Evidence of Zika Virus Infection in Cord Blood and Urine from Newborns with Congenital Abnormalities, Indonesia

The 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: 32043460

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34
Absence of induction of enhanced reactivation of herpes simplex virus in cells from Xeroderma pigmentosum patients without skin cancer
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Article
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Absence of induction of enhanced reactivation of herpes simplex virus in cells from Xeroderma pigmentosum patients without skin cancer

Cancer 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: CNREA8

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35
Absent meibomian glands: A marker for EEC syndrome
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Article
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Absent meibomian glands: A marker for EEC syndrome

Eye (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: EYEEEC

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36
Acanthosis nigricans in monozygotic twins with post receptor defects causing insulin resistance
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Article
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Acanthosis nigricans in monozygotic twins with post receptor defects causing insulin resistance

Clinical 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: CEDEDE

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37
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 Interventi
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38
Acceptability of a parental early warning tool for parents of infants with complex congenital heart disease: a qualitative feasibility study
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Article
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Acceptability of a parental early warning tool for parents of infants with complex congenital heart disease: a qualitative feasibility study

Archives 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: 29567664

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39
Accessory Cardiac Bronchus
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Article
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Accessory Cardiac Bronchus

Lung, 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: LUNGD9

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40
Accounting for a quantitative trait locus for plasma triglyceride levels: utilization of variants in multiple genes
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Accounting for a quantitative trait locus for plasma triglyceride levels: utilization of variants in multiple genes

PloS 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: 22485179

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