Showing results (711-720 of 4,757) with videos related to

Sort By:
Pageof 476
Orphanet Journal of Rare Diseases|September 2, 2020
Clinical profiles and risk factors of 7-day and 30-day mortality among 160 pediatric patients with hemophagocytic lymphohistiocytosisXun Li, Haipeng Yan, Xinping Zhang, et al.
Orphanet Journal of Rare Diseases|August 29, 2020
Early management of sight threatening retinopathy in incontinentia pigmentiSarah Michel, Clothilde Reynaud, Alejandra Daruich, et al.
Orphanet Journal of Rare Diseases|August 30, 2020
Immune-mediated thrombotic thrombocytopenic purpura in patients with and without systemic lupus erythematosus: a retrospective studyCai Yue, Jian Su, Xiaohong Fan, et al.
Orphanet Journal of Rare Diseases|April 7, 2020
Transcript, protein, metabolite and cellular studies in skin fibroblasts demonstrate variable pathogenic impacts of NPC1 mutationsDita Musalkova, Filip Majer, Ladislav Kuchar, et al.
Orphanet Journal of Rare Diseases|April 7, 2020
Late-onset Pompe disease (LOPD) in Belgium: clinical characteristics and outcome measuresP Vanherpe, S Fieuws, A D'Hondt, et al.
Orphanet Journal of Rare Diseases|April 4, 2020
LipoDDx: a mobile application for identification of rare lipodystrophy syndromesDavid Araújo-Vilar, Antía Fernández-Pombo, Gemma Rodríguez-Carnero, et al.
Orphanet Journal of Rare Diseases|October 13, 2020
The urgent need to empower rare disease organizations in China: an interview-based studyXuefeng Li, Zijuan Lu, Jianyong Zhang, et al.
Orphanet Journal of Rare Diseases|October 14, 2020
Patient reported outcome measures in a large cohort of patients with type 1 Gaucher diseaseTama Dinur, Majdolen Istaiti, Dafna Frydman, et al.
Orphanet Journal of Rare Diseases|October 24, 2020
Myocardial disease and ventricular arrhythmia in Marfan syndrome: a prospective studyLaura Muiño-Mosquera, Hans De Wilde, Daniel Devos, et al.
Orphanet Journal of Rare Diseases|October 28, 2020
The effect of the glucosylceramide synthase inhibitor lucerastat on cardiac repolarization: results from a thorough QT study in healthy subjectsMarkus S Mueller, Patricia N Sidharta, Christine Voors-Pette, et al.
Pageof 476