Clinical images: J Rare Dis Diagn Ther. (1)
Hyperpigmentation in a newborn with familial glucocorticoid deficiency
Author(s): Roya Farhadi and Daniel Zamanfar
Case Report: J Rare Dis Diagn Ther. (2)
Neurological Complications in Phenotypical Pfeiffer Syndrome: A Case Report
Author(s): Christian J Amlang, Amre Nouh, Douglas E Anderson and Jose Biller,
Case Report: J Rare Dis Diagn Ther. (3)
Contiguous Gene Deletion of Chromosome Xp in Three Families Encompassing OTC, RPGR and TSPAN7 Genes
Author(s): Shailly Jain-Ghai,Stephanie Skinner, Jessica Hartley,Stephanie Fox, Daniela Buhas, Cheryl Rockman-Greenberg and Alicia Chan
Clinical images: J Rare Dis Diagn Ther. (4)
High Tension Electrical Injury
Author(s): Dana A Abdulmagid
Short Communication: J Rare Dis Diagn Ther. (5)
Rare Diseases: A Common Problem
Author(s): Gopalan Narayanan
Case Report: J Rare Dis Diagn Ther. (6)
A Case of Congenital Giant Pigmented Nevus in a Newborn of Triplet Birth
Author(s): Roya Farhadi
Commentary: J Rare Dis Diagn Ther. (7)
Rare disorders: the role of accurate case-based research, inquiries and qualitative research
Author(s): Mario G Bianchetti, Maria Caiata-Zufferey, Gregorio P Milani and Sebastiano A G Lava
Case Report: J Rare Dis Diagn Ther. (8)
Medial Rectus Epithelial Inclusion Cyst after Strabismus Surgery and Review of the Literature
Author(s): Xiaona Wang, Xin Ge and Jianmin Ma
Mini Review: J Rare Dis Diagn Ther. (9)
Enerca: The European Network for Patients with Rare Anaemias
Author(s): Joan-Lluis Vives Corrons and Maria del Mar Manu Pereira
Research Article: J Rare Dis Diagn Ther. (10)
Muscle MRI in Classic Infantile Pompe Disease
Author(s): Stephan C Wens, Tessa E van Doeveren, Maarten H Lequin, Carin M van Gelder, Rob M Verdijk, Hannerieke J van der Hout, Pieter A van Doorn, Ans T van der Ploeg and Rene I de Coo
Research Article: J Rare Dis Diagn Ther. (11)
The Niemann-Pick Disease Type C Suspicion Index: Development of a New Tool to Aid Diagnosis
Author(s): Christian J Hendriksz, Mercedes Pineda, Michael Fahey,Mark Walterfang, Miriam Stampfer, Heiko Runz, Marc C. Patterson, Juan V. Torres and Stefan A. Kolb