Zobrazeno 1 - 10
of 11
pro vyhledávání: '"Michael Wangler"'
Autor:
Lindsay Burrage, Denise Lanza, Paul Marcogliese, Di Lu, Chih-Wei Logan Hsu, Nathalie Aceves, Matthew Gonzalez, Audrey Christiansen, Tara Rasmussen, Angelina Gaspero, John Seavitt, Mary Dickinson, Brian Shayota, Stephanie Pachter, Debra-Lynn Day-Salvatore, Oguz Kanca, Michael Wangler, Lorraine Potocki, Jill Rosenfeld, Brendan Lee, Shinya Yamamoto, Hugo Bellen, Jason Heaney
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101070- (2024)
Externí odkaz:
https://doaj.org/article/b6e725224c064b4684ffdeb3ba055845
Autor:
Blake Vuocolo, Ryan German, Carlos Bacino, Chaya Murali, Seema Lalani, Stephanie Baskin, Elizabeth Roeder, Carrie Schmid, Scott McLean, Rebecca Littlejohn, Olivia Juarez, Melissa Stuebben, Liesbeth Vossaert, Nichole Owen, Christine Eng, Pengfei Liu, Zhandong Liu, Dongxue Mao, Seon Young Kim, Sasidhar Pasupuleti, Shinya Yamamoto, Hugo Bellen, Michael Wangler
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101394- (2024)
Externí odkaz:
https://doaj.org/article/5dca2f1197f241059f8b41cb53e86b74
Autor:
Cara P. Ford, Rebecca O. Littlejohn, Ryan German, Blake Vuocolo, Jose Aceves, Liesbeth Vossaert, Nichole Owen, Michael Wangler, Carrie A. Schmid, The Texome Project
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 11, Iss 12, Pp n/a-n/a (2023)
Abstract Background Genomic medicine is revolutionizing the diagnosis of rare diseases, but the implementation has not benefited underrepresented populations to the same degree. Here, we report the case of a 7‐year‐old boy with hypotonia, global
Externí odkaz:
https://doaj.org/article/546c32499e404c419a93523af25faa20
Autor:
Joseph E Faust, Arvind Manisundaram, Pavlina T Ivanova, Stephen B Milne, James B Summerville, H Alex Brown, Michael Wangler, Michael Stern, James A McNew
Publikováno v:
PLoS ONE, Vol 9, Iss 6, p e100213 (2014)
Peroxisomes are ubiquitous organelles that perform lipid and reactive oxygen species metabolism. Defects in peroxisome biogenesis cause peroxisome biogenesis disorders (PBDs). The most severe PBD, Zellweger syndrome, is characterized in part by neuro
Externí odkaz:
https://doaj.org/article/8ac00f121dc24f2f97045226dd2d5b84
Autor:
Kayla Treat, Sharayu Jangam, Shinya Yamamoto, Kerry White, Oguz Kanca, Celanie Christensen, Sally Lynch, Julia Baptista, Mandy HY. Tsang, Kristy Jay, Brian HY. Chung, Liz YP. Yuen, Martin MC. Chui, Hugo Bellen, Michael Wangler, Erin Conboy, Francesco Vetrini
Publikováno v:
Genetics in Medicine. 24:S257-S258
Autor:
Benjamin J. Grosso, Sidharth Tyagi, Daniel Bennett, Ulises Meza, Michael Wangler, Roger A. Bannister
Publikováno v:
Biophysical Journal. 121:98a-99a
Autor:
Laura Mackay, Michael Wangler, Nancy Braverman, Mary Layne, Pranjali Bhagwat, Joseph Hacia, Wedad Fallatah
Publikováno v:
Genetics in Medicine. 24:S16
Publikováno v:
Genetics in Medicine. 24:S82
Autor:
Lindsay Burrage, Jill Rosenfeld, Shinya Yamamoto, Michael Wangler, Hugo Bellen, Denise Lanza, Matthew Roth, Ramin Zahedi Darshoori, John R. Seavitt, Mary Dickinson, Brendan Lee, Aleksandar Milosavljevic, Jason Heaney
Publikováno v:
Genetics in Medicine. 24:S59