Autor: Latest Results
-
Expanding the genetic and clinical landscapes of hereditary spastic paraplegia (HSP): a cohort study of 103 families
Background Results Conclusions
-
A case of mixed histiocytosis (Erdheim-Chester disease and Langerhans cell histiocytosis) with STEAP3-associated anemia and type 4 hemochromatosis
Background Methods Results Conclusion …
-
Patient-reported clinical characteristics and healthcare utilization in Spinal Muscular Atrophy (SMA): a cross-sectional study from Iran
Background Methods Results Conclusion …
-
Quality of life in children and adults with epidermolysis bullosa: the QoL-REB explorative study
Background Methods Results Conclusions
-
Original investigation: evolution of long-term cardiac tumours in patients with tuberous sclerosis
Background Objectives Methods Results Concl…
-
Tailoring acceptance and commitment therapy for parents of children with undiagnosed conditions: a qualitative pre-implementation study
Background Methods Results Conclusions …