Orphanet Journal of Rare Diseases
Journal Abbreviation: ORPHANET J RARE DIS
ISSN: 1750-1172
Publisher: BioMed Central
Publications (28)
The mutational and phenotypic spectrum of TUBA1A-associated tubulinopathy (2019)
Hebebrand M, Hüffmeier U, Trollmann R, Hehr U, Uebe S, Ekici AB, Kraus C, et al.
Journal article
TSC-associated neuropsychiatric disorders (TAND): findings from the TOSCA natural history study (2018)
De Vries PJ, Belousova E, Benedik MP, Carter T, Cottin V, Curatolo P, Dahlin M, et al.
Journal article
Whipple's disease mimicking rheumatoid arthritis can cause misdiagnosis and treatment failure (2017)
Glaser C, Rieg S, Wiech T, Scholz C, Endres D, Stich O, Hasselblatt P, et al.
Journal article
Vascular type Ehlers-Danlos syndrome is associated with platelet dysfunction and low vitamin D serum concentration (2016)
Busch A, Hoffjan S, Bergmann F, Hartung B, Jung H, Hanel D, Tzschach A, et al.
Journal article
Expanding the clinical spectrum of COL1A1 mutations in different forms of glaucoma (2016)
Mauri L, Uebe S, Sticht H, Vossmerbaeumer U, Weisschuh N, Manfredini E, Maselli E, et al.
Journal article
SPATA5 mutations cause a distinct autosomal recessive phenotype of intellectual disability, hypotonia and hearing loss (2016)
Buchert R, Nesbitt AI, Tawamie H, Krantz ID, Medne L, Helbig I, Matalon DR, et al.
Journal article
47 patients with FLNA associated periventricular nodular heterotopia (2015)
Lange M, Kasper B, Bohring A, Rutsch F, Kluger G, Hoffjan S, Spranger S, et al.
Journal article
Clinical spectrum of females with HCCS mutation: from no clinical signs to a neonatal lethal form of the microphthalmia with linear skin defects (MLS) syndrome (2014)
Van Rahden VA, Rau I, Fuchs S, Kosyna FK, De Almeida HL, Fryssira H, Isidor B, et al.
Journal article