Not logged in Share Save
Genetic Reasons for Phenotypic Diversity in Neuronal Ceroid Lipofuscinoses and High-Resolution Imaging as a Marker of Retinal Disease Huey, Jennifer; Gupta, Pankhuri; Wendel, Benjamin; Liu, Teng; Bharadwaj, Palash; Schwartz, Hillary; Kelly, John P.; Chang, Irene; Chao, Jennifer R.; Sabesan, Ramkumar; Nagiel, Aaron; Mustafi, Debarshi Share Save
Frontiers in congenital disorders of glycosylation consortium, a cross-sectional study report at year 5 of 280 individuals in the natural history cohort Lam, Christina; Scaglia, Fernando; Berry, Gerard T.; Larson, Austin; Sarafoglou, Kyriakie; Andersson, Hans C.; Sklirou, Evgenia; Tan, Queenie K. G.; Starosta, Rodrigo T.; Sadek, Mustafa; Wolfe, Lynne; Horikoshi, Seishu; Ali, May; Barone, Rita; Campbell, Teresa; Chang, Irene J.; Coles, Kiaira; Cook, Edward; Eklund, Erik A.; Engelhardt, Nicole M.; Freeman, Mary; Friedman, Jennifer; Fu, Debbie Y. T.; Botzo, Grace; Rawls, Brandy; Hernandez, Christien; Johnsen, Christin; Keller, Kierstin; Kramer, Sara; Kuschel, Bryce; Leshinski, Angela; Martinez-Duncker, Ivan; Mazza, Gina L.; Mercimek-Andrews, Saadet; Miller, Bradley S.; Muthusamy, Karthik; Neira, Juanita; Patterson, Marc C.; Pogorelc, Natalie; Powers, Lex N.; Ramey, Elizabeth; Reinhart, Michaela; Squire, Audrey; Af, Jenny Thies; Vockley, Jerry; Vreugdenhil, Hayden; Witters, Peter; Youbi, Mehdi; Zeighami, Aziza; Zemet, Roni; Edmondson, Andrew C.; Morava, Eva Share Save
A rapid and non-invasive proteomic analysis using DBS and buccal swab for multiplexed second-tier screening of Pompe disease and Mucopolysaccharidosis type I Zhang, Tong; Duong, Phi; Dayuha, Remwilyn; Collins, Christopher J.; Beckman, Erika; Thies, Jenny; Chang, Irene; Lam, Christina; Sun, Angela; Scott, Anna I.; Thompson, John; Singh, Aranjeet; Khaledi, Hamid; Gelb, Michael H.; Hahn, Si Houn Share Save
Targeted long-read sequencing identifies missing disease-causing variation Miller, Danny E.; Sulovari, Arvis; Wang, Tianyun; Loucks, Hailey; Hoekzema, Kendra; Munson, Katherine M.; Lewis, Alexandra P.; Fuerte, Edith P. Almanza; Paschal, Catherine R.; Walsh, Tom; Thies, Jenny; Bennett, James T.; Glass, Ian; Dipple, Katrina M.; Patterson, Karynne; Bonkowski, Emily S.; Nelson, Zoe; Squire, Audrey; Sikes, Megan; Beckman, Erika; Bennett, Robin L.; Earl, Dawn; Lee, Winston; Allikmets, Rando; Perlman, Seth J.; Chow, Penny; Hing, Anne, V; Wenger, Tara L.; Adam, Margaret P.; Sun, Angela; Lam, Christina; Chang, Irene; Zou, Xue; Austin, Stephanie L.; Huggins, Erin; Safi, Alexias; Iyengar, Apoorva K.; Reddy, Timothy E.; Majoros, William H.; Allen, Andrew S.; Crawford, Gregory E.; Kishnani, Priya S.; King, Mary-Claire; Cherry, Tim; Chong, Jessica X.; Bamshad, Michael J.; Nickerson, Deborah A.; Mefford, Heather C.; Doherty, Dan; Eichler, Evan E. Share Save
Tutorial: Triheptanoin and Nutrition Management for Treatment of Long-Chain Fatty Acid Oxidation Disorders Norris, Marie K.; Scott, Anna I.; Sullivan, Sarah; Chang, Irene J.; Lam, Christina; Sun, Angela; Hahn, Sihoun; Thies, Jenny M.; Gunnarson, Melissa; McKean, Kelly N.; Merritt, J. Lawrence, II Share Save
Homozygous Mutations in CSF1R Cause a Pediatric-Onset Leukoencephalopathy and Can Result in Congenital Absence of Microglia Oosterhof, Nynke; Chang, Irene J.; Karimiani, Ehsan Ghayoor; Kuil, Laura E.; Jensen, Dana M.; Daza, Ray; Young, Erica; Astle, Lee; van der Linde, Herma C.; Shivaram, Giridhar M.; Demmers, Jeroen; Latimer, Caitlin S.; Keene, C. Dirk; Loter, Emily; Maroofian, Reza; van Ham, Tjakko J.; Hevner, Robert F.; Bennett, James T. Share Save
Rapid Multiplexed Proteomic Screening for Primary Immunodeficiency Disorders From Dried Blood Spots Collins, Christopher J.; Chang, Irene J.; Jung, Sunhee; Dayuha, Remwilyn; Whiteaker, Jeffrey R.; Segundo, Gesmar R. S.; Torgerson, Troy R.; Ochs, Hans D.; Paulovich, Amanda G.; Hahn, Si Houn Share Save
Proteolytic immuno-SRM-MSMS in dried blood spots to determine immunogenicity in patients with infantile Pompe disease Chang, Irene J.; Dayuha, Remwilyn; Lee, Jeongho; Jung, Sunhee; Jack, Rhona; Lam, Christina T.; Merritt, John Lawrence, II; Sun, Angela; Schoenherr, Regine M.; Whiteaker, Jeffrey R.; Paulovich, Amanda G.; Hahn, Sihoun Share Save
Distribution of cervical intraepithelial neoplasia on the cervix in Chinese women: pooled analysis of 19 population based screening studies Zhao, Yu-qian; Chang, Irene J.; Zhao, Fang-hui; Hu, Shang-ying; Smith, Jennifer S.; Zhang, Xun; Li, Shu-min; Bai, Ping; Zhang, Wen-hua; Qiao, You-lin Share Save
The Natural History of Cervical Cancer in Chinese Women: Results from an 11-Year Follow-Up Study in China Using a Multistate Model Zhang, Shao-Kai; Kang, Le-Ni; Chang, Irene J.; Zhao, Fang-Hui; Hu, Shang-Ying; Chen, Wen; Shi, Ju-Fang; Zhang, Xun; Pan, Qin-Jing; Li, Shu-Min; Qiao, You-Lin Share Save
Share Save
.png){kind=icon}
.png){kind=icon}
Not logged in.png){kind=icon}
.png){kind=icon}
.png){kind=icon}
.png){kind=icon}
.png){kind=icon}