skip to main content
Ngôn ngữ:
Giới hạn tìm kiếm: Giới hạn tìm kiếm: Dạng tài nguyên Hiển thị kết quả với: Hiển thị kết quả với: Dạng tìm kiếm Chỉ mục

Kết quả 1 - 10 của 293  trong Tất cả tài nguyên

Sắp xếp theo: Sắp xếp theo: Thích hợpOr hit Enter to replace sort method
Kết quả 1 2 3 4 5 next page
Lọc theo: Nhan đề tạp chí: Journal Of Medical Genetics xóa
Result Number Material Type Add to My Shelf Action Record Details and Options
1
Methyl-CpG-binding protein 2 (MECP2) mutation type is associated with disease severity in Rett syndrome
Methyl-CpG-binding protein 2 (MECP2) mutation type is associated with disease severity in Rett syndrome
Material Type:
Bài báo 		Thêm vào Góc nghiên cứu

Methyl-CpG-binding protein 2 (MECP2) mutation type is associated with disease severity in Rett syndrome

Journal of medical genetics, 2014-03, Vol.51 (3), p.152-158 [Tạp chí có phản biện]

Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://group.bmj.com/group/rights-licensing/permissions ;Copyright: 2014 Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://group.bmj.com/group/rights-licensing/permissions ;ISSN: 0022-2593 ;EISSN: 1468-6244 ;DOI: 10.1136/jmedgenet-2013-102113 ;PMID: 24399845 ;CODEN: JMDGAE

Tài liệu số/Tài liệu điện tử

Trích dẫn Trích dẫn bởi
2
Update and audit of the St George’s classification algorithm of primary lymphatic anomalies: a clinical and molecular approach to diagnosis
Update and audit of the St George’s classification algorithm of primary lymphatic anomalies: a clinical and molecular approach to diagnosis
Material Type:
Bài báo 		Thêm vào Góc nghiên cứu

Update and audit of the St George’s classification algorithm of primary lymphatic anomalies: a clinical and molecular approach to diagnosis

Journal of medical genetics, 2020-10, Vol.57 (10), p.653-659 [Tạp chí có phản biện]

Author(s) (or their employer(s)) 2020. Re-use permitted under CC BY. Published by BMJ. ;2020 Author(s) (or their employer(s)) 2020. Re-use permitted under CC BY. Published by BMJ. This is an open access article distributed in accordance with the Creative Commons Attribution 4.0 Unported (CC BY 4.0) license, which permits others to copy, redistribute, remix, transform and build upon this work for any purpose, provided the original work is properly cited, a link to the licence is given, and indication of whether changes were made. See: https://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. ;Author(s) (or their employer(s)) 2020. Re-use permitted under CC BY. Published by BMJ. 2020 ;ISSN: 0022-2593 ;EISSN: 1468-6244 ;DOI: 10.1136/jmedgenet-2019-106084 ;PMID: 32409509

Tài liệu số/Tài liệu điện tử

Trích dẫn Trích dẫn bởi
3
Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita
Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita
Material Type:
Bài báo 		Thêm vào Góc nghiên cứu

Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita

Journal of medical genetics, 2022-06, Vol.59 (6), p.559-567 [Tạp chí có phản biện]

Author(s) (or their employer(s)) 2022. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ. ;Author(s) (or their employer(s)) 2021. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ. ;2022 Author(s) (or their employer(s)) 2022. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ. http://creativecommons.org/licenses/by-nc/4.0/ This is an open access article distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited, appropriate credit is given, any changes made indicated, and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/ . Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. ;Distributed under a Creative Commons Attribution 4.0 International License ;Author(s) (or their employer(s)) 2022. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ. 2022 ;ISSN: 0022-2593 ;EISSN: 1468-6244 ;DOI: 10.1136/jmedgenet-2020-107595 ;PMID: 33820833

Tài liệu số/Tài liệu điện tử

Trích dẫn Trích dẫn bởi
4
Bi-allelic loss-of-function variants in KIF21A cause severe fetal akinesia with arthrogryposis multiplex
Bi-allelic loss-of-function variants in KIF21A cause severe fetal akinesia with arthrogryposis multiplex
Material Type:
Bài báo 		Thêm vào Góc nghiên cứu

Bi-allelic loss-of-function variants in KIF21A cause severe fetal akinesia with arthrogryposis multiplex

Journal of medical genetics, 2023-01, Vol.60 (1), p.48-56 [Tạp chí có phản biện]

Author(s) (or their employer(s)) 2023. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ. ;2022 Author(s) (or their employer(s)) 2021. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ. http://creativecommons.org/licenses/by-nc/4.0/ This is an open access article distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited, appropriate credit is given, any changes made indicated, and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/ . Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. ;2023 Author(s) (or their employer(s)) 2023. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ. http://creativecommons.org/licenses/by-nc/4.0/ This is an open access article distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited, appropriate credit is given, any changes made indicated, and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/ . Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. ;Author(s) (or their employer(s)) 2023. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ. 2023 ;ISSN: 0022-2593 ;EISSN: 1468-6244 ;DOI: 10.1136/jmedgenet-2021-108064 ;PMID: 34740919

Tài liệu số/Tài liệu điện tử

Trích dẫn Trích dẫn bởi
5
16p13.11 microduplication in 45 new patients: refined clinical significance and genotype–phenotype correlations
16p13.11 microduplication in 45 new patients: refined clinical significance and genotype–phenotype correlations
Material Type:
Bài báo 		Thêm vào Góc nghiên cứu

16p13.11 microduplication in 45 new patients: refined clinical significance and genotype–phenotype correlations

Journal of medical genetics, 2020-05, Vol.57 (5), p.301-307 [Tạp chí có phản biện]

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. ;Distributed under a Creative Commons Attribution 4.0 International License ;ISSN: 0022-2593 ;ISSN: 1468-6244 ;EISSN: 1468-6244 ;DOI: 10.1136/jmedgenet-2018-105389 ;PMID: 30287593

Tài liệu số/Tài liệu điện tử

Trích dẫn Trích dẫn bởi
6
Neurogenetic fetal akinesia and arthrogryposis: genetics, expanding genotype-phenotypes and functional genomics
Neurogenetic fetal akinesia and arthrogryposis: genetics, expanding genotype-phenotypes and functional genomics
Material Type:
Bài báo 		Thêm vào Góc nghiên cứu

Neurogenetic fetal akinesia and arthrogryposis: genetics, expanding genotype-phenotypes and functional genomics

Journal of medical genetics, 2021-09, Vol.58 (9), p.609-618 [Tạp chí có phản biện]

Author(s) (or their employer(s)) 2021. No commercial re-use. See rights and permissions. Published by BMJ. ;2021 Author(s) (or their employer(s)) 2021. No commercial re-use. See rights and permissions. Published by BMJ. ;ISSN: 0022-2593 ;EISSN: 1468-6244 ;DOI: 10.1136/jmedgenet-2020-106901 ;PMID: 33060286

Tài liệu số/Tài liệu điện tử

Trích dẫn Trích dẫn bởi
7
Systematic reanalysis of copy number losses of uncertain clinical significance
Systematic reanalysis of copy number losses of uncertain clinical significance
Material Type:
Bài báo 		Thêm vào Góc nghiên cứu

Systematic reanalysis of copy number losses of uncertain clinical significance

Journal of medical genetics, 2024-04, p.jmg-2023-109559 [Tạp chí có phản biện]

Author(s) (or their employer(s)) 2024. No commercial re-use. See rights and permissions. Published by BMJ. ;2024 Author(s) (or their employer(s)) 2024. No commercial re-use. See rights and permissions. Published by BMJ. ;ISSN: 0022-2593 ;EISSN: 1468-6244 ;DOI: 10.1136/jmg-2023-109559 ;PMID: 38604752

Tài liệu số/Tài liệu điện tử

Trích dẫn Trích dẫn bởi
8
Genetic obesity: next-generation sequencing results of 1230 patients with obesity
Genetic obesity: next-generation sequencing results of 1230 patients with obesity
Material Type:
Bài báo 		Thêm vào Góc nghiên cứu

Genetic obesity: next-generation sequencing results of 1230 patients with obesity

Journal of medical genetics, 2018-09, Vol.55 (9), p.578-586 [Tạp chí có phản biện]

Author(s) (or their employer(s)) 2018. No commercial re-use. See rights and permissions. Published by BMJ. ;2018 Author(s) (or their employer(s)) 2018. No commercial re-use. See rights and permissions. Published by BMJ. ;ISSN: 0022-2593 ;EISSN: 1468-6244 ;DOI: 10.1136/jmedgenet-2018-105315 ;PMID: 29970488

Tài liệu số/Tài liệu điện tử

Trích dẫn Trích dẫn bởi
9
Recurrent, founder and hypomorphic variants contribute to the genetic landscape of Joubert syndrome
Recurrent, founder and hypomorphic variants contribute to the genetic landscape of Joubert syndrome
Material Type:
Bài báo 		Thêm vào Góc nghiên cứu

Recurrent, founder and hypomorphic variants contribute to the genetic landscape of Joubert syndrome

Journal of medical genetics, 2023-09, Vol.60 (9), p.885-893 [Tạp chí có phản biện]

Author(s) (or their employer(s)) 2023. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ. ;2023 Author(s) (or their employer(s)) 2023. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ. http://creativecommons.org/licenses/by-nc/4.0/ This is an open access article distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited, appropriate credit is given, any changes made indicated, and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/ . Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. ;Author(s) (or their employer(s)) 2023. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ. 2023 ;ISSN: 0022-2593 ;EISSN: 1468-6244 ;DOI: 10.1136/jmg-2022-108725 ;PMID: 36788019

Tài liệu số/Tài liệu điện tử

Trích dẫn Trích dẫn bởi
10
Clinical and molecular features of 66 patients with musculocontractural Ehlers−Danlos syndrome caused by pathogenic variants in CHST14 (mcEDS-CHST14)
Clinical and molecular features of 66 patients with musculocontractural Ehlers−Danlos syndrome caused by pathogenic variants in CHST14 (mcEDS-CHST14)
Material Type:
Bài báo 		Thêm vào Góc nghiên cứu

Clinical and molecular features of 66 patients with musculocontractural Ehlers−Danlos syndrome caused by pathogenic variants in CHST14 (mcEDS-CHST14)

Journal of medical genetics, 2022-09, Vol.59 (9), p.865-877 [Tạp chí có phản biện]

Author(s) (or their employer(s)) 2022. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ. ;2022 Author(s) (or their employer(s)) 2022. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ. http://creativecommons.org/licenses/by-nc/4.0/ This is an open access article distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited, appropriate credit is given, any changes made indicated, and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/ . Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. ;Author(s) (or their employer(s)) 2022. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ. 2022 ;ISSN: 0022-2593 ;EISSN: 1468-6244 ;DOI: 10.1136/jmedgenet-2020-107623 ;PMID: 34815299

Tài liệu số/Tài liệu điện tử

Trích dẫn Trích dẫn bởi

Kết quả 1 - 10 của 293  trong Tất cả tài nguyên

Sắp xếp theo: Sắp xếp theo: Thích hợpOr hit Enter to replace sort method
Kết quả 1 2 3 4 5 next page

Chủ đề của tôi

  1. Thiết lập

Refine Search Results

Mở rộng kết quả tìm kiếm

  1.   

Lọc kết quả

Năm xuất bản 

Từ đến
Chọn
  1. Trước1990  (14)
  2. 1990 đến 1998  (21)
  3. 1999 đến 2005  (99)
  4. 2006 đến 2014  (49)
  5. Sau 2014  (111)
  6. Lựa chọn khác open sub menu

Dạng tài nguyên 

  1. Bài báo  (291)
  2. Bình xét khoa học  (2)
  3. Lựa chọn khác open sub menu

Nhan đề tạp chí 

  1. J Med Genet  (6)
  2. J. Med. Genet.;  (1)
  3. J.Med.Genet  (1)
  4. Lựa chọn khác open sub menu
INSPIRE LIBRARY - TON DUC THANG UNIVERSITY (84-028) 37 755 057 Feedback
19 Nguyen Huu Tho St. Dist.7, HCM thuvien@tdtu.edu.vn

Copyright © 2017 INSPIRE LIBRARY - TON DUC THANG UNIVERSITY

Đang tìm Cơ sở dữ liệu bên ngoài...