skip to main content
Language:
Search Limited to: Search Limited to: Resource type Show Results with: Show Results with: Search type Index

Results 1 - 20 of 434  for All Library Resources

Results 1 2 3 4 5 next page
Show only
Result Number Material Type Add to My Shelf Action Record Details and Options
1
Utility of whole-exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care
Material Type:
Article
Add to My Research

Utility of whole-exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care

Clinical genetics, 2016-03, Vol.89 (3), p.275-284 [Peer Reviewed Journal]

2015 The Authors. published by John Wiley & Sons A/S. Published by John Wiley & Sons Ltd. ;2015 The Authors. Clinical Genetics published by John Wiley & Sons A/S. Published by John Wiley & Sons Ltd. ;2016 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd ;ISSN: 0009-9163 ;EISSN: 1399-0004 ;DOI: 10.1111/cge.12654 ;PMID: 26283276

Full text available

2
Multidrug resistance proteins (MRPs/ABCCs) in cancer chemotherapy and genetic diseases
Material Type:
Article
Add to My Research

Multidrug resistance proteins (MRPs/ABCCs) in cancer chemotherapy and genetic diseases

The FEBS journal, 2011-09, Vol.278 (18), p.3226-3245 [Peer Reviewed Journal]

2011 St. John's University. Journal compilation © 2011 FEBS ;2011 St. John's University. Journal compilation © 2011 FEBS. ;ISSN: 1742-464X ;EISSN: 1742-4658 ;DOI: 10.1111/j.1742-4658.2011.08235.x ;PMID: 21740521

Full text available

3
Missing heritability of complex diseases: Enlightenment by genetic variants from intermediate phenotypes
Material Type:
Article
Add to My Research

Missing heritability of complex diseases: Enlightenment by genetic variants from intermediate phenotypes

BioEssays, 2016-07, Vol.38 (7), p.664-673 [Peer Reviewed Journal]

2016 The Authors BioEssays Published by WILEY Periodicals, Inc. ;2016 WILEY Periodicals, Inc. ;ISSN: 0265-9247 ;EISSN: 1521-1878 ;DOI: 10.1002/bies.201600084 ;PMID: 27241833 ;CODEN: BIOEEJ

Full text available

4
Urinary Biomarkers of Renal Disease in Dogs with X‐Linked Hereditary Nephropathy
Material Type:
Article
Add to My Research

Urinary Biomarkers of Renal Disease in Dogs with X‐Linked Hereditary Nephropathy

Journal of veterinary internal medicine, 2012-03, Vol.26 (2), p.282-293 [Peer Reviewed Journal]

Copyright © 2012 by the American College of Veterinary Internal Medicine ;Copyright © 2012 by the American College of Veterinary Internal Medicine. ;ISSN: 0891-6640 ;EISSN: 1939-1676 ;DOI: 10.1111/j.1939-1676.2012.00891.x ;PMID: 22356524

Digital Resources/Online E-Resources

5
Barth syndrome, a human disorder of cardiolipin metabolism
Material Type:
Article
Add to My Research

Barth syndrome, a human disorder of cardiolipin metabolism

FEBS letters, 2006-10, Vol.580 (23), p.5450-5455 [Peer Reviewed Journal]

2006 Federation of European Biochemical Societies ;FEBS Letters 580 (2006) 1873-3468 © 2015 Federation of European Biochemical Societies ;ISSN: 0014-5793 ;EISSN: 1873-3468 ;DOI: 10.1016/j.febslet.2006.07.022 ;PMID: 16973164

Full text available

6
Chronic demodicosis in patients with immune dysregulation: An unexpected infectious manifestation of Signal transducer and activator of transcription (STAT)1 gain‐of‐function
Material Type:
Article
Add to My Research

Chronic demodicosis in patients with immune dysregulation: An unexpected infectious manifestation of Signal transducer and activator of transcription (STAT)1 gain‐of‐function

Clinical and experimental immunology, 2021-10, Vol.206 (1), p.56-67 [Peer Reviewed Journal]

2021 British Society for Immunology ;2021 British Society for Immunology. ;ISSN: 0009-9104 ;EISSN: 1365-2249 ;DOI: 10.1111/cei.13636 ;PMID: 34114647

Full text available

7
Inhibitors of BTK and ITK: State of the New Drugs for Cancer, Autoimmunity and Inflammatory Diseases
Material Type:
Article
Add to My Research

Inhibitors of BTK and ITK: State of the New Drugs for Cancer, Autoimmunity and Inflammatory Diseases

Scandinavian journal of immunology, 2013-08, Vol.78 (2), p.130-139 [Peer Reviewed Journal]

2013 John Wiley & Sons Ltd ;2013 John Wiley & Sons Ltd. ;Copyright © 2013 John Wiley & Sons Ltd ;ISSN: 0300-9475 ;ISSN: 1365-3083 ;EISSN: 1365-3083 ;DOI: 10.1111/sji.12069 ;PMID: 23672610

Full text available

8
Complex single gene disorders and epilepsy
Material Type:
Article
Add to My Research

Complex single gene disorders and epilepsy

Epilepsia (Copenhagen), 2012-09, Vol.53 (s4), p.81-91 [Peer Reviewed Journal]

Wiley Periodicals, Inc. © 2012 International League Against Epilepsy ;2015 INIST-CNRS ;Wiley Periodicals, Inc. © 2012 International League Against Epilepsy. ;ISSN: 0013-9580 ;EISSN: 1528-1167 ;DOI: 10.1111/j.1528-1167.2012.03617.x ;PMID: 22946725 ;CODEN: EPILAK

Full text available

9
The role of lipid droplet associated proteins in inherited human disorders
Material Type:
Article
Add to My Research

The role of lipid droplet associated proteins in inherited human disorders

FEBS letters, 2024-05, Vol.598 (10), p.1205-1206 [Peer Reviewed Journal]

2023 The Authors. published by John Wiley & Sons Ltd on behalf of Federation of European Biochemical Societies. ;2023 The Authors. FEBS Letters published by John Wiley & Sons Ltd on behalf of Federation of European Biochemical Societies. ;ISSN: 0014-5793 ;EISSN: 1873-3468 ;DOI: 10.1002/1873-3468.14779 ;PMID: 38016936

Full text available

10
Primary immunodeficiencies and the control of Epstein-Barr virus infection
Material Type:
Article
Add to My Research

Primary immunodeficiencies and the control of Epstein-Barr virus infection

Annals of the New York Academy of Sciences, 2015-11, Vol.1356 (1), p.22-44 [Peer Reviewed Journal]

2015 The Authors published by Wiley Periodicals, Inc. on behalf of New York Academy of Sciences. ;2015 The Authors Annals of the New York Academy of Sciences published by Wiley Periodicals, Inc. on behalf of New York Academy of Sciences. ;2015 The New York Academy of Sciences ;ISSN: 0077-8923 ;EISSN: 1749-6632 ;DOI: 10.1111/nyas.12937 ;PMID: 26415106 ;CODEN: ANYAA9

Full text available

11
MCLPMDA: A novel method for miRNA‐disease association prediction based on matrix completion and label propagation
Material Type:
Article
Add to My Research

MCLPMDA: A novel method for miRNA‐disease association prediction based on matrix completion and label propagation

Journal of cellular and molecular medicine, 2019-02, Vol.23 (2), p.1427-1438 [Peer Reviewed Journal]

2018 The Authors. Journal of Cellular and Molecular Medicine published by John Wiley & Sons Ltd and Foundation for Cellular and Molecular Medicine. ;ISSN: 1582-1838 ;EISSN: 1582-4934 ;DOI: 10.1111/jcmm.14048 ;PMID: 30499204

Full text available

12
Successful bilateral lung transplantation in pulmonary alveolar microlithiasis: A case report and review of literature
Material Type:
Article
Add to My Research

Successful bilateral lung transplantation in pulmonary alveolar microlithiasis: A case report and review of literature

The clinical respiratory journal, 2024-05, Vol.18 (5), p.e13773-n/a [Peer Reviewed Journal]

2024 The Authors. published by John Wiley & Sons Ltd. ;2024 The Authors. The Clinical Respiratory Journal published by John Wiley & Sons Ltd. ;2024. This article 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. ;ISSN: 1752-6981 ;EISSN: 1752-699X ;DOI: 10.1111/crj.13773 ;PMID: 38725329

Full text available

13
Functional and structural insight into properdin control of complement alternative pathway amplification
Material Type:
Article
Add to My Research

Functional and structural insight into properdin control of complement alternative pathway amplification

The EMBO journal, 2017-04, Vol.36 (8), p.1084-1099 [Peer Reviewed Journal]

2017 The Authors ;2017 The Authors. ;ISSN: 0261-4189 ;EISSN: 1460-2075 ;DOI: 10.15252/embj.201696173 ;PMID: 28264884 ;CODEN: EMJODG

Full text available

14
Neuropsychological Status and Structural Brain Imaging in Adolescents With Single Ventricle Who Underwent the Fontan Procedure
Material Type:
Article
Add to My Research

Neuropsychological Status and Structural Brain Imaging in Adolescents With Single Ventricle Who Underwent the Fontan Procedure

Journal of the American Heart Association, 2015-12, Vol.4 (12), p.n/a [Peer Reviewed Journal]

2015 The Authors. Published on behalf of the American Heart Association, Inc., by Wiley Blackwell. ;ISSN: 2047-9980 ;EISSN: 2047-9980 ;DOI: 10.1161/JAHA.115.002302 ;PMID: 26667085

Full text available

15
Diverse diseases from a ubiquitous process: The ribosomopathy paradox
Material Type:
Article
Add to My Research

Diverse diseases from a ubiquitous process: The ribosomopathy paradox

FEBS letters, 2014-05, Vol.588 (9), p.1491-1500 [Peer Reviewed Journal]

2014 Federation of European Biochemical Societies ;FEBS Letters 588 (2014) 1873-3468 © 2015 Federation of European Biochemical Societies ;Copyright © 2014 Federation of European Biochemical Societies. Published by Elsevier B.V. All rights reserved. ;ISSN: 0014-5793 ;EISSN: 1873-3468 ;DOI: 10.1016/j.febslet.2014.03.024 ;PMID: 24657617

Full text available

16
The role of FOXP3+ regulatory T cells in human autoimmune and inflammatory diseases
Material Type:
Article
Add to My Research

The role of FOXP3+ regulatory T cells in human autoimmune and inflammatory diseases

Clinical and experimental immunology, 2019-07, Vol.197 (1), p.24-35 [Peer Reviewed Journal]

2019 British Society for Immunology ;2019 British Society for Immunology. ;Distributed under a Creative Commons Attribution 4.0 International License ;ISSN: 0009-9104 ;EISSN: 1365-2249 ;DOI: 10.1111/cei.13288 ;PMID: 30830965

Full text available

17
plasma membrane calcium pump in health and disease
Material Type:
Article
Add to My Research

plasma membrane calcium pump in health and disease

The FEBS journal, 2013-11, Vol.280 (21), p.5385-5397 [Peer Reviewed Journal]

2013 The Authors Journal compilation © 2013 FEBS ;2013 The Authors Journal compilation © 2013 FEBS. ;Copyright © 2013 Federation of European Biochemical Societies ;ISSN: 1742-464X ;EISSN: 1742-4658 ;DOI: 10.1111/febs.12193 ;PMID: 23413890

Full text available

18
Jérôme Lejeune passed away 25 years ago
Material Type:
Article
Add to My Research

Jérôme Lejeune passed away 25 years ago

Hereditas, 2019, Vol.156 (1), p.18-18, Article 18 [Peer Reviewed Journal]

2019. This work is licensed 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: 1601-5223 ;ISSN: 0018-0661 ;EISSN: 1601-5223 ;DOI: 10.1186/s41065-019-0094-8 ;PMID: 31182939

Full text available

19
Rab and Arf Proteins in Genetic Diseases
Material Type:
Article
Add to My Research

Rab and Arf Proteins in Genetic Diseases

Traffic (Copenhagen, Denmark), 2013-08, Vol.14 (8), p.871-885 [Peer Reviewed Journal]

2013 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd ;2013 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd. ;ISSN: 1398-9219 ;EISSN: 1600-0854 ;DOI: 10.1111/tra.12072 ;PMID: 23565987

Full text available

20
The Cellular and Physiological Functions of the Lowe Syndrome Protein OCRL1
Material Type:
Article
Add to My Research

The Cellular and Physiological Functions of the Lowe Syndrome Protein OCRL1

Traffic (Copenhagen, Denmark), 2014-05, Vol.15 (5), p.471-487 [Peer Reviewed Journal]

2014 The Authors. Traffic published by John Wiley & Sons Ltd. ;2014 The Authors. Traffic published by John Wiley & Sons Ltd. 2014 ;ISSN: 1398-9219 ;EISSN: 1600-0854 ;DOI: 10.1111/tra.12160 ;PMID: 24499450

Full text available

Results 1 - 20 of 434  for All Library Resources

Results 1 2 3 4 5 next page

Personalize your results

  1. Edit

Refine Search Results

Expand My Results

  1.   

Show only

  1. Peer-reviewed Journals (426)

Refine My Results

Creation Date 

From To
  1. Before 1978  (24)
  2. 1978 To 1988  (27)
  3. 1989 To 1999  (78)
  4. 2000 To 2011  (147)
  5. After 2011  (159)
  6. More options open sub menu

Language 

  1. Japanese  (69)
  2. French  (1)
  3. German  (1)
  4. Norwegian  (1)
  5. More options open sub menu

Searching Remote Databases, Please Wait