Showing results (1341-1350 of 4,782) with videos related to

Sort By:
Pageof 479
Orphanet Journal of Rare Diseases|June 25, 2011
Phenotypic variability of the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VIA): clinical, molecular and biochemical delineationMarianne Rohrbach, Anthony Vandersteen, Uluç Yiş, et al.
Orphanet Journal of Rare Diseases|May 17, 2011
Clinical and animal research findings in pycnodysostosis and gene mutations of cathepsin K from 1996 to 2011Yang Xue, Tao Cai, Songtao Shi, et al.
Orphanet Journal of Rare Diseases|December 16, 2014
Management of endocrino-metabolic dysfunctions after allogeneic hematopoietic stem cell transplantationMarie-Christine Vantyghem, Jérôme Cornillon, Christine Decanter, et al.
Orphanet Journal of Rare Diseases|December 16, 2014
Treatment of motor and behavioural symptoms in three Lesch-Nyhan patients with intrathecal baclofenMarco Pozzi, Luigi Piccinini, Maurizio Gallo, et al.
Orphanet Journal of Rare Diseases|December 16, 2014
Extensive clinical, hormonal and genetic screening in a large consecutive series of 46,XY neonates and infants with atypical sexual developmentDorien Baetens, Wilhelm Mladenov, Barbara Delle Chiaie, et al.
Orphanet Journal of Rare Diseases|September 23, 2015
Paediatric ChordomasKévin Beccaria, Christian Sainte-Rose, Michel Zerah, et al.
Orphanet Journal of Rare Diseases|September 24, 2015
Genital ulcer severity score and genital health quality of life in Behçet's diseaseAmal Senusi, Noha Seoudi, Lesley Ann Bergmeier, et al.
Orphanet Journal of Rare Diseases|September 25, 2015
Ketogenic diet in a patient with congenital hyperinsulinism: a novel approach to prevent brain damageArianna Maiorana, Lucilla Manganozzi, Fabrizio Barbetti, et al.
Orphanet Journal of Rare Diseases|January 13, 2016
The involvement of patient organisations in rare disease research: a mixed methods study in AustraliaDeirdre Pinto, Dominique Martin, Richard Chenhall
Orphanet Journal of Rare Diseases|January 15, 2016
Role of molecular testing in the multidisciplinary diagnostic approach of ichthyosisAndrea Diociaiuti, May El Hachem, Elisa Pisaneschi, et al.
Pageof 479