Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Jon A.L. Willcox"'
Autor:
Min Young Jang, Parth N. Patel, Alexandre C. Pereira, Jon A.L. Willcox, Alireza Haghighi, Angela C. Tai, Kaoru Ito, Sarah U. Morton, Joshua M. Gorham, David M. McKean, Steven R. DePalma, Daniel Bernstein, Martina Brueckner, Wendy K. Chung, Alessandro Giardini, Elizabeth Goldmuntz, Jonathan R. Kaltman, Richard Kim, Jane W. Newburger, Yufeng Shen, Deepak Srivastava, Martin Tristani-Firouzi, Bruce D. Gelb, George A. Porter, Christine E. Seidman, Jonathan G. Seidman
Publikováno v:
Circulation: Genomic and Precision Medicine.
BACKGROUND: Known genetic causes of congenital heart disease (CHD) explain METHODS: We tested de novo variants from trio studies of 2649 CHD probands and their parents, as well as rare (allele frequency, − 6 ) variants from 4472 CHD probands in the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::3850b1978608906ee6433dfae530c335
https://doi.org/10.1161/circgen.122.003924
https://doi.org/10.1161/circgen.122.003924
Autor:
Jon A.L. Willcox, Joshua T. Geiger, Sarah U. Morton, David McKean, Daniel Quiat, Joshua M. Gorham, Angela C. Tai, Steven DePalma, Daniel Bernstein, Martina Brueckner, Wendy K. Chung, Alessandro Giardini, Elizabeth Goldmuntz, Jonathan R. Kaltman, Richard Kim, Jane W. Newburger, Yufeng Shen, Deepak Srivastava, Martin Tristani-Firouzi, Bruce Gelb, George A. Porter, J.G. Seidman, Christine E. Seidman
Publikováno v:
American journal of human genetics, vol 109, iss 5
Am J Hum Genet
Am J Hum Genet
The well-established manifestation of mitochondrial mutations in functional cardiac disease (e.g., mitochondrial cardiomyopathy) prompted the hypothesis that mitochondrial DNA (mtDNA) sequence and/or copy number (mtDNAcn) variation contribute to card
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::079934bb4b99f809ed3852b7f50b14df
https://escholarship.org/uc/item/8wg5k5vc
https://escholarship.org/uc/item/8wg5k5vc
