Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Hyunyong Koh"'
Autor:
Abbe Lai, Aubrie Soucy, Christelle Moufawad El Achkar, Anthony J. Barkovich, Yang Cao, Marina DiStefano, Michael Evenson, Renzo Guerrini, Devon Knight, Yi-Shan Lee, Heather C. Mefford, David T. Miller, Ghayda Mirzaa, Ganesh Mochida, Lance H. Rodan, Mayher Patel, Lacey Smith, Sara Spencer, Christopher A. Walsh, Edward Yang, Christopher J. Yuskaitis, Timothy Yu, Annapurna Poduri, Christelle Achkar, James Barkovich, Jamel Chelly, Elizabeth Engle, William Hong, Hyunyong Koh, Rhonda Lassiter, Eric Marsh, Rebecca Pinsky, Catherine Shain, Bo Yuan, Christopher Yuskaitis
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics. 24(11)
Postzygotic (somatic) variants in the mTOR pathway genes cause a spectrum of distinct developmental abnormalities. Accurate classification of somatic variants in this group of disorders is crucial for affected individuals and their families.The ClinG
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bcbf172361e2b526e4e2fd2d07cb8f0b
https://pubmed.ncbi.nlm.nih.gov/35997716
https://pubmed.ncbi.nlm.nih.gov/35997716
Autor:
Sara O. Vargas, Hyunyong Koh, Ingrid A. Holm, Elisabeth A. Haas, Christine Keywan, Richard D. Goldstein, Catherine A. Brownstein, Annapurna Poduri, Sanda Alexandrescu, Gerard T. Berry, Robin L. Haynes, Erin Plews-Ogan, Alireza Haghighi
Publikováno v:
Molecular Genetics and Metabolism. 132:S59-S61
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::484e777674da55a0b48ce7deb306b992
https://doi.org/10.1016/s1096-7192(21)00172-4
https://doi.org/10.1016/s1096-7192(21)00172-4
Autor:
Annapurna Poduri, Alireza Haghighi, Hyunyong Koh, Gerard T. Berry, Christine Keywan, Sanda Alexandrescu, Richard D. Goldstein, Elisabeth A. Haas, Robin L. Haynes, Erin Plews-Ogan, Catherine A. Brownstein, Sara O. Vargas, Ingrid A. Holm
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics. 24(4)
Background: Sudden unexpected death in pediatrics (SUDP) encompasses infant and child deaths without established cause. The objective of this study was to elucidate genetic factors contributing to SUDP, approaching SUDP as an undiagnosed disease with
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::29d84b949c872a505541d257ac6e093d
https://pubmed.ncbi.nlm.nih.gov/36216474
https://pubmed.ncbi.nlm.nih.gov/36216474