Showing results (1311-1320 of 4,782) with videos related to

Sort By:
Pageof 479
Orphanet Journal of Rare Diseases|December 15, 2021
Altered expressions of CXCR4 and CD26 on T-helper lymphocytes in hereditary hemorrhagic telangiectasiaAlexandre Guilhem, Pierre Portalès, Sophie Dupuis-Girod, et al.
Orphanet Journal of Rare Diseases|December 15, 2021
Clinical development innovation in rare diseases: lessons learned and best practices from the DevelopAKUre consortiumMattias Rudebeck, Ciarán Scott, Nicholas P Rhodes, et al.
Orphanet Journal of Rare Diseases|December 15, 2021
Sebelipase alfa enzyme replacement therapy in Wolman disease: a nationwide cohort with up to ten years of follow-upTanguy Demaret, Florence Lacaille, Camille Wicker, et al.
Orphanet Journal of Rare Diseases|December 15, 2021
Novel LTBP3 mutations associated with thoracic aortic aneurysms and dissectionsGuoyan Zhu, Mingyao Luo, Qianlong Chen, et al.
Orphanet Journal of Rare Diseases|December 19, 2021
National Rare Diseases Registry System (NRDRS): China's first nation-wide rare diseases demographic analysesJian Guo, Peng Liu, Limeng Chen, et al.
Orphanet Journal of Rare Diseases|January 11, 2022
Experienced fatigue in people with rare disorders: a scoping review on characteristics of existing researchTrine Bathen, Heidi Johansen, Hilde Strømme, et al.
Orphanet Journal of Rare Diseases|November 25, 2021
Overlap phenotypes of the left ventricular noncompaction and hypertrophic cardiomyopathy with complex arrhythmias and heart failure induced by the novel truncated DSC2 mutationYubi Lin, Jiana Huang, Zhiling Zhu, et al.
Orphanet Journal of Rare Diseases|March 25, 2021
Observation of the natural course of type 3 spinal muscular atrophy: data from the polish registry of spinal muscular atrophyAnna Lusakowska, Maria Jedrzejowska, Anna Kaminska, et al.
Orphanet Journal of Rare Diseases|March 11, 2021
Value of amniotic fluid homocysteine assay in prenatal diagnosis of combined methylmalonic acidemia and homocystinuria, cobalamin C typeTing Chen, Lili Liang, Huiwen Zhang, et al.
Orphanet Journal of Rare Diseases|November 5, 2021
Hearing loss in Norwegian adults with achondroplasiaSvein O Fredwall, Björn Åberg, Hanne Berdal, et al.
Pageof 479