Hearing loss as a newly recognized symptom of GSD type I. A clinical report of four unrelated Polish patients.
Pyruvate dehydrogenase complex deficiency: updating the clinical, metabolic and mutational landscapes
Clinical Experience with the AKT1 Inhibitor Miransertib in two Children with PIK3CA-related overgrowth syndrome
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