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Orphanet Journal of Rare Diseases|June 26, 2019
De-duplicating patient records from three independent data sources reveals the incidence of rare neuromuscular disorders in GermanyKirsten König, Astrid Pechmann, Simone Thiele, et al.
Orphanet Journal of Rare Diseases|June 26, 2019
Genome sequencing and implications for rare disordersJennifer E Posey
Orphanet Journal of Rare Diseases|August 4, 2016
Expanding the clinical spectrum of COL1A1 mutations in different forms of glaucomaLucia Mauri, Steffen Uebe, Heinrich Sticht, et al.
Orphanet Journal of Rare Diseases|August 7, 2016
Phenylketonuria screening in the Republic of MacedoniaMirjana Kocova, Violeta Anastasovska
Orphanet Journal of Rare Diseases|July 31, 2016
Nosological delineation of congenital ocular motor apraxia type Cogan: an observational studySarah Wente, Simone Schröder, Johannes Buckard, et al.
Orphanet Journal of Rare Diseases|May 2, 2015
Rhabdomyolysis: a genetic perspectiveRenata Siciliani Scalco, Alice R Gardiner, Robert Ds Pitceathly, et al.
Orphanet Journal of Rare Diseases|April 22, 2015
Pressure for drug development in lysosomal storage disorders - a quantitative analysis thirty years beyond the US orphan drug actKonstantin Mechler, William K Mountford, Georg F Hoffmann, et al.
Orphanet Journal of Rare Diseases|April 18, 2015
The genotypic and phenotypic spectrum of PIGA deficiencyMaja Tarailo-Graovac, Graham Sinclair, Sylvia Stockler-Ipsiroglu, et al.
Orphanet Journal of Rare Diseases|April 19, 2015
The modifier role of RET-G691S polymorphism in hereditary medullary thyroid carcinoma: functional characterization and expression/penetrance studiesCarla Colombo, Emanuela Minna, Maria Grazia Rizzetti, et al.
Orphanet Journal of Rare Diseases|August 5, 2016
Vascular type Ehlers-Danlos syndrome is associated with platelet dysfunction and low vitamin D serum concentrationAlbert Busch, Sabine Hoffjan, Frauke Bergmann, et al.
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