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Orphanet Journal of Rare Diseases|June 27, 2013
Clinical manifestations in female carriers of mucopolysaccharidosis type II: a Spanish cross-sectional studyEncarna Guillén-Navarro, María Rosario Domingo-Jiménez, Carlos Alcalde-Martín, et al.
Orphanet Journal of Rare Diseases|June 27, 2013
Metabolite analysis distinguishes between mice with epidermolysis bullosa acquisita and healthy miceSarah Schönig, Andreas Recke, Misa Hirose, et al.
Orphanet Journal of Rare Diseases|April 30, 2013
The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAPSarah M Nikkel, Andrew Dauber, Sonja de Munnik, et al.
Orphanet Journal of Rare Diseases|December 11, 2012
Early presentation of gait impairment in Wolfram SyndromeKristen A Pickett, Ryan P Duncan, James Hoekel, et al.
Orphanet Journal of Rare Diseases|May 30, 2012
The surgical management of fibrous dysplasia of boneRobert P Stanton, Ernesto Ippolito, Dempsey Springfield, et al.
Orphanet Journal of Rare Diseases|May 30, 2012
The role of SH3BP2 in the pathophysiology of cherubismErnst J Reichenberger, Michael A Levine, Bjorn R Olsen, et al.
Orphanet Journal of Rare Diseases|November 28, 2012
Specific combination of compound heterozygous mutations in 17β-hydroxysteroid dehydrogenase type 4 (HSD17B4) defines a new subtype of D-bifunctional protein deficiencyHugh J McMillan, Thea Worthylake, Jeremy Schwartzentruber, et al.
Orphanet Journal of Rare Diseases|November 15, 2013
Encephalopathy in children with Dravet syndrome is not a pure consequence of epilepsyRima Nabbout, Nicole Chemaly, Mathilde Chipaux, et al.
Orphanet Journal of Rare Diseases|November 15, 2013
Clinical characteristics of patients with spinocerebellar ataxias 1, 2, 3 and 6 in the US; a prospective observational studyTetsuo Ashizawa, Karla P Figueroa, Susan L Perlman, et al.
Orphanet Journal of Rare Diseases|December 11, 2013
Induced pluripotent stem cells from patients with human fibrodysplasia ossificans progressiva show increased mineralization and cartilage formationYoshihisa Matsumoto, Yohei Hayashi, Christopher R Schlieve, et al.
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