Latest papers

JAAD Grand Rounds quiz. A slow-growing nodular plaque.

Vindication of prenatal diagnosis and treatment of congenital adrenal hyperplasia with low-dose dexamethasone.

EU paves way for overseas treatment of rare diseases.

Synovial hemangioma of the knee joint in a 3-year-old girl.

Glanzmann thrombasthenia detected because of knee hemarthrosis: a case report.

Rare conditions: where do primary care and genetic diseases intersect?

Chylothorax after coronary artery bypass and internal mammary artery harvesting: a case report.

Australian Paediatric Surveillance Unit annual report, 2008 and 2009.

Cranio-meta-diaphyseal dysplasia: 25 year follow-up and review of literature.

Opinion: Open innovation: an answer for neglected diseases.

Onychoheterotopia: pathogenesis, presentation, and management of ectopic nail.

Whipple's disease: a rare disease revisited.

The path to personalized medicine.

[Rare differential diagnosis of left brachial pain - Case 6/2010]

Pituicytoma: characterization of a unique neoplasm by histology, immunohistochemistry, ultrastructure, and array-based comparative genomic hybridization.

The diagnosis of cystic lung diseases: a role for bronchoalveolar lavage and transbronchial biopsy?

Rare pulmonary diseases: a path to the future.

An unusual cause of pelvic pain and fever: periurethral abscess from an infected urethral diverticulum.

Collaboration is key to treating uncommon cancers: scientists and patients champion research in these rare diseases.

[Targeted treatment of rare connective tissue tumors and sarcomas]