Showing results (1391-1400 of 4,782) with videos related to

Sort By:
Pageof 479
Orphanet Journal of Rare Diseases|October 14, 2021
Motor function in type 2 and 3 SMA patients treated with Nusinersen: a critical review and meta-analysisGiorgia Coratti, Costanza Cutrona, Maria Carmela Pera, et al.
Orphanet Journal of Rare Diseases|October 19, 2021
Psychometric evaluation of the Indolent Systemic Mastocytosis Symptom Assessment Form (ISM-SAF) in a phase 2 clinical studyBrad Padilla, Alan L Shields, Fiona Taylor, et al.
Orphanet Journal of Rare Diseases|October 19, 2021
Eat, breathe, sleep with Osteogenesis ImperfectaAntonella LoMauro, Carlo Vittorio Landoni, Paolo Fraschini, et al.
Orphanet Journal of Rare Diseases|September 29, 2021
HAE patient self-sampling for biomarker establishmentToni M Förster, Markus Magerl, Marcus Maurer, et al.
Orphanet Journal of Rare Diseases|October 3, 2021
Collaborative model for diagnosis and treatment of very rare diseases: experience in Spain with thymidine kinase 2 deficiencyCristina Domínguez-González, Marcos Madruga-Garrido, Michio Hirano, et al.
Orphanet Journal of Rare Diseases|October 3, 2021
Risk of autoimmune diseases in patients with RASopathies: systematic study of humoral and cellular immunityM A Siano, V Marchetti, S Pagano, et al.
Orphanet Journal of Rare Diseases|October 12, 2021
Modifiable factors affecting renal preservation in type I glycogen storage disease after liver transplantation: a single-center propensity-match cohort studyYi-Chia Chan, Kai-Min Liu, Chao-Long Chen, et al.
Orphanet Journal of Rare Diseases|September 24, 2021
Physical and mental growth and development in children with congenital hypothyroidism: a case-control studyJavad Nazari, Kimia Jafari, Maryam Chegini, et al.
Orphanet Journal of Rare Diseases|October 17, 2019
Genotypic characteristics of Chinese patients with BHD syndrome and functional analysis of FLCN variantsKeqiang Liu, Wenshuai Xu, Xinlun Tian, et al.
Orphanet Journal of Rare Diseases|May 3, 2022
Clinical and genetic characterization of a cohort of 97 CLN6 patients tested at a single centerCorina-Marcela Rus, Thomas Weissensteiner, Catarina Pereira, et al.
Pageof 479