5 Results for All Library Resources
Sorted by:
Sorted by:
RelevanceOr hit Enter to replace sort method
- Relevance
- Date-newest
- Date-oldest
- Popularity
- Author
- Title
Refined by:
Journal Title:
European Journal Of Human Genetics : Ejhg
subject:
Medical And Health Sciences
subject:
Medical And Health Sciences
| Result Number | Material Type | Add to My Shelf Action | Record Details and Options |
|---|---|---|---|
| 1 |
Material Type: Article
|
|
A novel phenotype in N-glycosylation disorders: Gillessen-Kaesbach-Nishimura skeletal dysplasia due to pathogenic variants in ALG9European journal of human genetics : EJHG, 2016-02, Vol.24 (2), p.198-207 [Peer Reviewed Journal]Copyright Nature Publishing Group Feb 2016 ;Copyright © 2016 Macmillan Publishers Limited 2016 Macmillan Publishers Limited ;ISSN: 1018-4813 ;ISSN: 1476-5438 ;EISSN: 1476-5438 ;DOI: 10.1038/ejhg.2015.91 ;PMID: 25966638Full text available |
| 2 |
Material Type: Article
|
|
Rare novel variants in the ZIC3 gene cause X-linked heterotaxyEuropean journal of human genetics : EJHG, 2016-12, Vol.24 (12), p.1783-1791 [Peer Reviewed Journal]Copyright Nature Publishing Group Dec 2016 ;Copyright © 2016 Macmillan Publishers Limited, part of Springer Nature. 2016 Macmillan Publishers Limited, part of Springer Nature. ;ISSN: 1018-4813 ;EISSN: 1476-5438 ;DOI: 10.1038/ejhg.2016.91 ;PMID: 27406248Full text available |
| 3 |
Material Type: Article
|
|
CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsiaEuropean journal of human genetics : EJHG, 2005-03, Vol.13 (3), p.302-308 [Peer Reviewed Journal]2005 INIST-CNRS ;Copyright Nature Publishing Group Mar 2005 ;ISSN: 1018-4813 ;ISSN: 1476-5438 ;EISSN: 1476-5438 ;DOI: 10.1038/sj.ejhg.5201269 ;PMID: 15657609Full text available |
| 4 |
Material Type: Article
|
|
Low frequency of mtDNA point mutations in patients with PEO associated with POLG1 mutationsEuropean journal of human genetics : EJHG, 2005-04, Vol.13 (4), p.463-469 [Peer Reviewed Journal]2005 INIST-CNRS ;Copyright Nature Publishing Group Apr 2005 ;ISSN: 1018-4813 ;EISSN: 1476-5438 ;DOI: 10.1038/sj.ejhg.5201341 ;PMID: 15702133Full text available |
| 5 |
Material Type: Article
|
|
Opportunistic genomic screening. Recommendations of the European Society of Human GeneticsEuropean journal of human genetics : EJHG, 2021-03, Vol.29 (3), p.365-377 [Peer Reviewed Journal]The Author(s) 2020. This work 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. ;Attribution ;The Author(s) 2020 ;ISSN: 1018-4813 ;ISSN: 1476-5438 ;EISSN: 1476-5438 ;DOI: 10.1038/s41431-020-00758-w ;PMID: 33223530Full text available |
Personalize your results
Refine Search Results
Expand My Results
Subject
- Medicinsk Genetik (4)
- Basic Medicine (4)
- Medicinska Och Farmaceutiska Grundvetenskaper (4)
- Gene Deletion (3)
- Female (3)
- Male (3)
- Congenital Diseases (3)
- Mutation (3)
- Clonal Deletion (2)
- Animals (2)
- Biological And Medical Sciences (2)
-
More options
Databases
|
||||
 |
INSPIRE LIBRARY - TON DUC THANG UNIVERSITY |  |
(84-028) 37 755 057 | Feedback |
| 19 Nguyen Huu Tho St. Dist.7, HCM |  |
thuvien@tdtu.edu.vn | ||