Showing results (481-490 of 4,750) with videos related to

Sort By:
Pageof 475
Orphanet Journal of Rare Diseases|September 23, 2018
Efficacy of sirolimus for the prevention of recurrent pneumothorax in patients with lymphangioleiomyomatosis: a case seriesLi Zhou, Ruoyun Ouyang, Hong Luo, et al.
Orphanet Journal of Rare Diseases|September 28, 2018
Broad phenotypic spectrum and genotype-phenotype correlations in GMPPB-related dystroglycanopathies: an Italian cross-sectional studyGuja Astrea, Alessandro Romano, Corrado Angelini, et al.
Orphanet Journal of Rare Diseases|April 10, 2019
High blood pressure, a red flag for the neonatal manifestation of urea cycle disordersUlrike Teufel, Peter Burgard, Jochen Meyburg, et al.
Orphanet Journal of Rare Diseases|October 12, 2018
Description of the molecular and phenotypic spectrum of Wiedemann-Steiner syndrome in Chinese patientsNiu Li, Yirou Wang, Yu Yang, et al.
Orphanet Journal of Rare Diseases|October 5, 2018
Urea cycle disorders in India: clinical course, biochemical and genetic investigations, and prenatal testingSunita Bijarnia-Mahay, Johannes Häberle, Anil B Jalan, et al.
Orphanet Journal of Rare Diseases|October 6, 2018
Autosomal-dominant transthyretin (TTR)-related amyloidosis is not a frequent CMT2 neuropathy "in disguise"Marina Grandis, Alessandro Geroldi, Rossella Gulli, et al.
Orphanet Journal of Rare Diseases|September 12, 2018
TSC-associated neuropsychiatric disorders (TAND): findings from the TOSCA natural history studyPetrus J de Vries, Elena Belousova, Mirjana P Benedik, et al.
Orphanet Journal of Rare Diseases|May 5, 2017
Initiating an undiagnosed diseases program in the Western Australian public health systemGareth Baynam, Stephanie Broley, Alicia Bauskis, et al.
Orphanet Journal of Rare Diseases|May 20, 2017
Thalassemias in South Asia: clinical lessons learnt from BangladeshMohammad Sorowar Hossain, Enayetur Raheem, Tanvira Afroze Sultana, et al.
Orphanet Journal of Rare Diseases|May 20, 2017
Central nervous system manganese induced lesions and clinical consequences in patients with hereditary hemorrhagic telangiectasiaM M Serra, C H Besada, A Cabana Cal, et al.
Pageof 475