Zobrazeno 1 - 10
of 7 886
pro vyhledávání: '"Nkx2"'
Autor:
Geçkinli, Bilgen Bilge1 bilgenbilge@yahoo.com, Özgümüş, Gözde Girgin2, Demir, Şenol3, Türkyilmaz, Ayberk1, Akalın, Figen4
Publikováno v:
Journal of Current Pediatrics / Guncel Pediatri. Dec2024, Vol. 22 Issue 3, p158-162. 5p.
Publikováno v:
Journal of China Medical University; Jun2024, Vol. 53 Issue 6, p547-554, 8p
Autor:
Stuart, William D.1, Fink-Baldauf, Iris M.1, Tomoshige, Koichi1,2, Guo, Minzhe1, Maeda, Yutaka1 yutaka.maeda@cchmc.org
Publikováno v:
Communications Biology. 5/12/2021, Vol. 4 Issue 1, p1-14. 14p.
Autor:
Francesca Magrinelli, Clarissa Rocca, Roberto Simone, Riccardo Zenezini Chiozzi, Zane Jaunmuktane, Niccolò E. Mencacci, Michele Tinazzi, Sandeep Jayawant, Andrea H. Nemeth, German Demidov, Henry Houlden, Kailash P. Bhatia
Publikováno v:
Movement Disorders. 38:347-353
Heterozygous NKX2-1 loss-of-function variants cause combinations of hyperkinetic movement disorders (MDs, particularly childhood-onset chorea), pulmonary dysfunction, and hypothyroidism. Mobile element insertions (MEIs) are potential disease-causing
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5058942a7ab3f9e0f6450c7a492df8ac
https://doi.org/10.1002/mds.29280
https://doi.org/10.1002/mds.29280
Publikováno v:
Chinese Journal of Tissue Engineering Research / Zhongguo Zuzhi Gongcheng Yanjiu. Jan2021, Vol. 25 Issue 1, p108-115. 8p.
Akademický článek
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Autor:
Chenniappan Aparna Devi, Soumya Alashetty, Gopal Champaka, Priya Dharmalingam, Anuradha Kapali, Nuthan Kumar
Publikováno v:
Diagnostic Cytopathology. 51
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::20078c83eea9173a82dfc678cd240c21
https://doi.org/10.1002/dc.25124
https://doi.org/10.1002/dc.25124
Autor:
Naoko Yamaguchi, Chang, Ernest W., Ziyan Lin, Shekhar, Akshay, Lei Bu, Khodadadi-Jamayran, Alireza, Tsirigos, Aristotelis, Yiyun Cen, Phoon, Colin K. L., Moskowitz, Ivan P., Park, David S.
Publikováno v:
Circulation; 11/21/2023, Vol. 148 Issue 21, p1705-1722, 18p
Autor:
Ritu Dixit, Damyanti Agrawal, Chitra Narasimhan, Bhagyalaxmi Mohapatra, Vijayalakshmi I Balekundri, Ashok Kumar
Publikováno v:
American Journal of Medical Genetics Part A. 185:3644-3663
NKX2-5, a master cardiac regulatory transcription factor was the first known genetic cause of congenital heart diseases (CHDs). To further investigate its role in CHD pathogenesis, we performed mutational screening of 285 CHD probands and 200 healthy
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a07114c3612a447d49819affeccdd205
https://doi.org/10.1002/ajmg.a.62413
https://doi.org/10.1002/ajmg.a.62413
Autor:
Clarke, Nicole1, Biscocho, Jewison1, Kwei, Kevin A.1, Davidson, Jean M.1, Sridhar, Sushmita1, Gong, Xue1, Pollack, Jonathan R.1 pollack1@stanford.edu
Publikováno v:
PLoS ONE. 10/11/2015, Vol. 10 Issue 10, p1-17. 17p.