Journal of Rare Disorders: Diagnosis & Therapy

Articles in press and Articles in process

• Opinion Article: J Rare Disord Diagn Ther (1-2)

  Challenges and Advances in Rare Blood Disorders

  Author(s): Russell Ware

  DOI: 10.36648/2380-7245.9.4.128

  Full-Text | PDF

• Case Report: J Rare Disord Diagn Ther (1-2)

  A Stroke Chameleon Presenting as Alien Hand Syndrome

  Author(s): Tamara Al Bahri

  DOI: 10.36648/2380-7245.9.5.131

  Full-Text | PDF

• Case Report: J Rare Disord Diagn Ther (1-2)

  Clinical Representation of Hematohidrosis: A Case Report

  Author(s): Shreyash Narendra Birar*, Dileep Babasaheb Kadam and Gajanan Balaji Kurundkar

  DOI: 10.36648/2380-7245.11.4.155

  Abstract | Full-Text | PDF

  Research Letter: J Rare Disord Diagn Ther (1-2)

  Physical and Psychosocial Outcomes of a Weekend Retreat for People Living with Hypermobile Ehlers-Danlos Syndrome

  Author(s): Sarah K Book1, Clair A Francomano1, Ryan H Wood2 and Colin ME Halverson3

  DOI: 10.36648/2380-7245.10.4.156

  Abstract | Full-Text | PDF

• Case Report: J Rare Disord Diagn Ther (1-5)

  Vascular Complications of Neurofibromatosis Type 1-A Case Report and Literature Review with Special Emphasis on Pregnancy

  Author(s): Ruben Ploger*, Ulrich Gembruch, Waltraut M Merz, Sylvia LohfinkSchumm, Glen Kristiansen, Alexander Kania and Frauke Verrel

  Abstract | Full-Text | PDF | Supplementary File

• Research Article: J Rare Disord Diagn Ther (1-5)

  Urinary Incontinence and Quality of Life in Women with Cysticc Fibrosis

  Abstract | Full-Text | PDF | Supplementary File

• Research Article: (1-9)

  Clinical and Molecular Spectrum of Sarcoglycanopathy Related Genes in Iranian Families

  Author(s): Mohammad Amin Khodadadegan, Soheila Abedini, Mohammad Doosti, Paria Najarzadeh Torbati, Mojtaba Safi, Hadis Malek, Samaneh Maskani, Masoumeh Ramahi, Sogand Malekzadeh, Mehran Beiraghi Toosi, Reza Boostani, Najmeh Ahangari, Ehsan Ghayoor Karimiani and Yalda Jamshidi

  DOI: 10.36648/2380-7245/8.5.56

  Abstract | Full-Text | PDF