Results 271 to 280 of about 1,474,438 (314)

Assessing rare disease understanding: a novel disease readiness level framework. [PDF]

Orphanet J Rare Dis
Kitahara K, Kano S.
europepmc   +1 more source

Optimizing regional rare disease management systems within China's policy framework: practical insights from the shantou experience. [PDF]

Orphanet J Rare Dis
Wu B, Wang Y, Liu C, Wang Q, Gong M, Chen Y.   +5 more
europepmc   +1 more source

Correction: Network Meta-analysis of Ravulizumab and Alternative Interventions for the Treatment of Neuromyelitis Optica Spectrum Disorder

Neurology and Therapy
Stacey L. Clardy, Sean J. Pittock, Orhan Aktas, Jin Nakahara, Noriko Isobe, Diego Centonze, Sami Fam, Adrian Kielhorn, Jeffrey C. Yu, Jeroen Jansen, Ina Zhang   +10 more
doaj   +1 more source

Trends, lag and characteristics of rare disease drug approval in the USA and China, 1983-2022. [PDF]

Orphanet J Rare Dis
Wang S, Liu X, Zou Y, Tang Y, Zuo W, Jiang R, Shang J, Tian X, Liu Q, Xu T, Zhang B, Zhang S.   +11 more
europepmc   +1 more source

PERADIGM: Phenotype embedding similarity-based rare disease gene mapping. [PDF]

PLoS Genet
Zheng W, Xie Y, Gu J, Li H, Somlo S, Besse W, Zhao H.   +6 more
europepmc   +1 more source

Inflammation Unchecked: Concurrent Kawasaki Disease and Stevens‐Johnson Syndrome in an 18‐Month‐Old Child

Arthritis Care &Research, EarlyView.
Catherine Deffendall, Jodi Backalar, Elizabeth Acevedo Zapata, Adriana Della Porta, Lorin Bibb, Tyler Reese, Charlotte M. Brown   +6 more
wiley   +1 more source

Genotype-based prevalence of Birt-Hogg-Dubé syndrome in the healthcare and genomic registry populations - breaking the 'rare disease' status? [PDF]

NPJ Genom Med
Broniarek I, Kwiatkowski DJ, Rajan N, Seyama K, Drzewiecki M, Stolarek I, Handschuh L, Figlerowicz M, Kozlowski P, Klonowska K.   +9 more
europepmc   +1 more source

Global partnerships in rare disease research. [PDF]

Dis Model Mech
Rogic S, Poirier-Morency G, Hieter P, Pavlidis P.   +3 more
europepmc   +1 more source

The Student Voice Prize: ten years of learning from healthcare students

Orphanet Journal of Rare Diseases
Lucy McKay, Richard Thompson
doaj   +1 more source

Future of Rare Disease Research, Career Options in Rare Diseases

, 2018
Chung, BHY
core