Zobrazeno 1 - 10
of 96
pro vyhledávání: '"next-generation sequencing analysis"'
Publikováno v:
International Journal of General Medicine, Vol Volume 17, Pp 2417-2431 (2024)
Qiang Wang,* Pinduan Bi,* Ding Luo, Pingli Cao, Weihong Chen, Bin Yang Department of Hepatobiliary Surgery, the First Affiliated Hospital of Kunming Medical University, Kunming, People’s Republic of China*These authors contributed equal
Externí odkaz:
https://doaj.org/article/4194e552c4d8457cb56d269351254e28
Autor:
Salvatore Vaiasicca, Gianmarco Melone, David W. James, Marcos Quintela, Alessandra Preziuso, Richard H. Finnell, Robert Steven Conlan, Lewis W. Francis, Bruna Corradetti
Publikováno v:
Stem Cell Research & Therapy, Vol 14, Iss 1, Pp 1-18 (2023)
Abstract Background Down syndrome (DS) clinical multisystem condition is generally considered the result of a genetic imbalance generated by the extra copy of chromosome 21. Recent discoveries, however, demonstrate that the molecular mechanisms activ
Externí odkaz:
https://doaj.org/article/893ffeab788f49c1b46c45eede2c8f52
Autor:
Eren Er, Semih Aşıkovalı, Hatice Özışık, Elif Sağsak, Damla Gökşen, Hüseyin Onay, Füsun Saygılı, Şükran Darcan, Samim Özen
Publikováno v:
Archives of Endocrinology and Metabolism, Vol 68 (2024)
ABSTRACT Objective: The aim of this study is to investigate the molecular genetic causes of non-syndromic primary ovarian insufficiency (POI) cases with the gene panel based on next generation sequencing analysis and to establish the relationship bet
Externí odkaz:
https://doaj.org/article/02598c02d4a94998b468f97f60c2bb3d
Autor:
Rui Zhou, Fan Tong, Yongchang Zhang, Ruigang Zhang, Yawen Bin, Sheng Zhang, Nong Yang, Xiaorong Dong
Publikováno v:
Frontiers in Oncology, Vol 13 (2023)
IntroductionThis study aimed to elucidate the relationship between dynamic genomic mutation alteration and pseudoprogression (PsPD)/hyperprogressive disease (HPD) in immunotherapy-treated advanced non-small-cell lung cancer (NSCLC), to provide clinic
Externí odkaz:
https://doaj.org/article/2f540bf6308a4837b3d9efab7ff47ca4
Publikováno v:
Neurology International, Vol 14, Iss 1, Pp 207-211 (2022)
We report the clinical and genetic analysis of a patient with a rare form of an autosomal recessive genetic neuropathy, Charcot Marie Tooth (CMT) disease type 4J. She presented at age 62 years with signs and symptoms consistent with a mild neuropathy
Externí odkaz:
https://doaj.org/article/d4df1a6a93604c07a1ec465020bae8d7
Publikováno v:
BMC Bioinformatics, Vol 21, Iss 1, Pp 1-22 (2020)
Abstract Background Mounting evidence suggests several diseases and biological processes target transcription termination to misregulate gene expression. Disruption of transcription termination leads to readthrough transcription past the 3′ end of
Externí odkaz:
https://doaj.org/article/c41be1592b4245c69859e99b40e02622
Autor:
Kaoru Hori, Takako Taniguchi, Trigan Elpita, Rathanon Khemgaew, Satomi Sasaki, Yasuhiro Gotoh, Ichiro Yasutomi, Naoaki Misawa
Publikováno v:
Animals, Vol 12, Iss 24, p 3584 (2022)
Non-healing claw lesions (NHCLs) are a newly characterized disorder affecting the deep dermis of the hoof in dairy cattle. Although NHCLs are thought to be associated with bovine digital dermatitis (BDD), their precise etiology is not yet understood.
Externí odkaz:
https://doaj.org/article/520e82455fb34e69a925997252bff01b
Autor:
Dvir Dahary, Yaron Golan, Yaron Mazor, Ofer Zelig, Ruth Barshir, Michal Twik, Tsippi Iny Stein, Guy Rosner, Revital Kariv, Fei Chen, Qiang Zhang, Yiping Shen, Marilyn Safran, Doron Lancet, Simon Fishilevich
Publikováno v:
BMC Medical Genomics, Vol 12, Iss 1, Pp 1-17 (2019)
Abstract Background The clinical genetics revolution ushers in great opportunities, accompanied by significant challenges. The fundamental mission in clinical genetics is to analyze genomes, and to identify the most relevant genetic variations underl
Externí odkaz:
https://doaj.org/article/4b87794257854274bfbe57b3b3799db9
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Akademický článek
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