Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Zeynep H. Coban-Akdemir"'
Autor:
Ivan K. Chinn, Robert P. Sanders, Asbjørg Stray-Pedersen, Zeynep H. Coban-Akdemir, Vy Hong-Diep Kim, Harjit Dadi, Chaim M. Roifman, Troy Quigg, James R. Lupski, Jordan S. Orange, I. Celine Hanson
Publikováno v:
Frontiers in Immunology, Vol 8 (2017)
With the advent of high-throughput genomic sequencing techniques, novel genetic etiologies are being uncovered for previously unexplained Mendelian phenotypes, and the underlying genetic architecture of disease is being unraveled. Although most of th
Externí odkaz:
https://doaj.org/article/8931e7901e084222a84c64cfbeb4073c
Autor:
Jordan S. Orange, Juan C. Aldave-Becerra, Aghiad Chamdin, Robert A. Krance, Lisa R. Forbes, Sarah K. Nicholas, Erin C. Peckham-Gregory, Asbjørg Stray-Pedersen, Maria I. Diaz, Tram N. Cao, Shalini N. Jhangiani, Jordana Goldman, Trung C. Nguyen, Baruch R. Goldberg, M. Cecilia Poli, Ivan K. Chinn, Richard A. Gibbs, Waleed Al-Herz, Sean A. McGhee, Luis A. Pedroza, Tiphanie P. Vogel, Helen E. Heslop, Emily M. Mace, Diana N. Hong, Carl E. Allen, Zeynep H. Coban-Akdemir, Olive S. Eckstein, Donna M. Muzny, Caridad Martinez, James R. Lupski, Dalia Bashir, Kenneth L. McClain, Harshal Abhyankar
Publikováno v:
Blood. 132(1)
The HLH-2004 criteria are used to diagnose hemophagocytic lymphohistiocytosis (HLH), yet concern exists for their misapplication, resulting in suboptimal treatment of some patients. We sought to define the genomic spectrum and associated outcomes of