Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Khalid Adnan Mohamed A. Fakhro"'
Autor:
Hiroko Wakimoto, Bruce D. Gelb, Stephen Sanders, Jennie Kline, Peter White, Khalid Adnan Mohamed A. Fakhro, Jonathan G. Seidman, Lijiang Ma, Michael Parfenov, Irina Tikhonova, Michael J. Italia, Robert D. Bjornson, Mathew W. State, Howard S. Seiden, Amy E. Roberts, George A. Porter, Samir Zaidi, Jeremy Leipzig, Wei Wang, Elizabeth Goldmuntz, Alexander Lopez, Jianming Jiang, Hongyu Zhao, Murim Choi, Christine E. Seidman, Steve Depalma, Sai Lakshmi Subramanian, Jonathan R. Kaltman, Jane W. Newburger, Richard B. Kim, Richard P. Lifton, Dorothy Warburton, Ravi Sachidanandam, Wendy K. Chung, Martina Brueckner, Shrikant Mane, John E. Deanfield, Kerry K. Brown, Juan Pablo Kaski, Nicholas Carriero, Angela Romano-Adesman, Teresa Lee, John D. Overton, Laura E. Mitchell, Hakon Hakonarson, Ismee A. Williams, Joseph T. Glessner, Yee Him Cheung, Itsik Pe'er, Roger E. Breitbart
Publikováno v:
Nature
Exome sequencing of patients with congenital heart disease (CHD) and their unaffected parents reveals an excess of strong-effect, protein-altering de novo mutations in genes expressed in the developing heart, many of which regulate chromatin modifica
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e4cb0ab5d93900a03790c2be330f8d56
https://pubmed.ncbi.nlm.nih.gov/24526674
https://pubmed.ncbi.nlm.nih.gov/24526674
Autor:
Stephanie M. Ware, Martina Brueckner, Jeffrey A. Towbin, Khalid Adnan Mohamed A. Fakhro, John W. Belmont, Murim Choi, Richard P. Lifton, Mustafa K. Khokha
Publikováno v:
Proceedings of the National Academy of Sciences of the United States of America. 108(7)
Dominant human genetic diseases that impair reproductive fitness and have high locus heterogeneity constitute a problem for gene discovery because the usual criterion of finding more mutations in specific genes than expected by chance may require ext
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e261806ff49cd544f16275572f4fb0a7
https://pubmed.ncbi.nlm.nih.gov/21282601
https://pubmed.ncbi.nlm.nih.gov/21282601