Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Audrey Bibb"'
Autor:
Alyssa L. Ritter, Jessica Gold, Hiroshi Hayashi, Amanda M. Ackermann, Stephanie Hanke, Cara Skraban, Sanmati Cuddapah, Elizabeth Bhoj, Dong Li, Yukiko Kuroda, Jessica Wen, Ryojun Takeda, Audrey Bibb, Salima El Chehadeh, Amélie Piton, Jeanine Ohl, Mary K. Kukolich, Keisuke Nagasaki, Kohji Kato, Tomoo Ogi, Tricia Bhatti, Pierre Russo, Bryan Krock, Jill R. Murrell, Jennifer A. Sullivan, Vandana Shashi, Nicholas Stong, Hakon Hakonarson, Kentaro Sawano, Erin Torti, Rebecca Willaert, Yue Si, William Ross Wilcox, Katrine Verena Wirgenes, Kristian Thomassen, Katherine Carlotti, Angelika Erwin, Joanna Lazier, Thorsten Marquardt, Miao He, Andrew C. Edmondson, Kosuke Izumi
Publikováno v:
Genet Med
PURPOSE: This study aimed to describe the phenotypic and molecular characteristics of ARCN1-related syndrome. METHODS: Patients with ARCN1 variants were identified, and clinician researchers were connected using GeneMatcher and physician referrals. C
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d86f4d63eea8ccc80eff372d25a1e057
https://europepmc.org/articles/PMC9923403/
https://europepmc.org/articles/PMC9923403/
Publikováno v:
Genetics in Medicine. 24:S212