Showing results (841-850 of 4,761) with videos related to
Sort By:
Pageof 477
Orphanet Journal of Rare Diseases|December 17, 2017
Morphoproteomics and biomedical analytics coincide with clinical outcomes in supporting a constant but variable role for the mTOR pathway in the biology of congenital hyperinsulinism of infancyRobert E Brown, Senthil Senniappan, Khalid Hussain, et al.Orphanet Journal of Rare Diseases|December 7, 2017
A novel mutation in ST14 at a functionally significant amino acid residue expands the spectrum of ichthyosis-hypotrichosis syndromeLeila Youssefian, Andrew Touati, Amir Hossein Saeidian, et al.Orphanet Journal of Rare Diseases|December 21, 2017
Novel SEA and LG2 Agrin mutations causing congenital Myasthenic syndromeJianying Xi, Chong Yan, Wei-Wei Liu, et al.Orphanet Journal of Rare Diseases|December 21, 2017
Effects of endurance training on skeletal muscle mitochondrial function in Huntington disease patientsSandro Manuel Mueller, Saskia Maria Gehrig, Jens A Petersen, et al.Orphanet Journal of Rare Diseases|December 22, 2014
Oxidative stress and mitochondrial dysfunction in Kindler syndromeElisabeth Zapatero-Solana, Jose Luis García-Giménez, Sara Guerrero-Aspizua, et al.Orphanet Journal of Rare Diseases|December 22, 2014
Skin fibroblasts from individuals with Chediak-Higashi Syndrome (CHS) exhibit hyposensitive immunogenic responseLe Wang, Kamila Rosamilia Kantovitz, Andrew Robert Cullinane, et al.Orphanet Journal of Rare Diseases|December 25, 2013
Reconciling uncertainty of costs and outcomes with the need for access to orphan medicinal products: a comparative study of managed entry agreements across seven European countriesThomas Morel, Francis Arickx, Gustaf Befrits, et al.Orphanet Journal of Rare Diseases|May 6, 2018
Epidemiology of Bradykinin-mediated angioedema: a systematic investigation of epidemiological studiesEmel Aygören-Pürsün, Markus Magerl, Andreas Maetzel, et al.Orphanet Journal of Rare Diseases|May 27, 2017
Whipple's disease mimicking rheumatoid arthritis can cause misdiagnosis and treatment failureCornelia Glaser, Siegbert Rieg, Thorsten Wiech, et al.Orphanet Journal of Rare Diseases|May 13, 2018
Beneath the floor: re-analysis of neurodevelopmental outcomes in untreated Hurler syndromeElsa G Shapiro, Chester B Whitley, Julie B EisengartPageof 477