Factors associated with refractory autoimmune necrotizing myopathy with anti-signal recognition particle antibodies
Clinical and molecular spectrum of 46, XY disorders of sex development that harbour MAMLD1 variations: Case series and review of literature
Myopia-26, the female-limited form of early-onset high myopia is associated with retinal ganglion cell dysfunction and primary open angle glaucoma
Sickle cell disease in Sri Lanka: Clinical and molecular basis and the unanswered questions about disease severeity.
Improved health-related quality of life in patients treated with topical sirolimus for facial angiofibroma associated with tuberous sclerosis complex.
Best practice guidelines for management of spinal disorders in skeletal dysplasia
Design, Development And Deployment Of A Web-Based Interoperable Registry For Inherited Retinal Dystrophies In Portugal – The Ird-Pt
Oral and Swallowing Abilities Test (Orsat) for Type 1 Sma Patients: Development and Application of a New Module.
Clinical and Molecular Characteristics of 69 Chinese Patients with Ornithine Transcarbamylase Deficiency
Characteristics and Treatment of Primary Mediastinal Seminomas: A Single-center Report of 27 Cases